Gene: LMNA

Alternate names for this Gene: CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1

Gene Summary: The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome.

Gene is located in Chromosome: 1

Location in Chromosome : 1q22

Description of this Gene: lamin A/C

Type of Gene: protein-coding

rs878853220 in LMNA gene and Abnormality of the calf musculature PMID 27717888 2016 New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.

rs121912496 in LMNA gene and Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) PMID 18551513 2008 De novo LMNA mutations cause a new form of congenital muscular dystrophy.

PMID 20886652 2010 "Two children with ""dropped head"" syndrome due to lamin A/C mutations."

PMID 22431096 2012 Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

PMID 20848652 2011 Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

PMID 27234031 2017 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

PMID 20498703 2010 Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10.

PMID 10939567 2000 Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

PMID 16772334 2006 Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci.

PMID 14659775 2003 Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.

PMID 21173262 2011 Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement.

PMID 20980393 2010 Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.

PMID 23427149 2013 Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.

PMID 17377071 2007 Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

PMID 1849984 1991 In situ hybridization detection of HTLV-I RNA in peripheral blood mononuclear cells of TSP/HAM patients and their spouses.

PMID 24642510 2014 Congenital fiber type disproportion myopathy caused by LMNA mutations.

PMID 11901143 2002 Structure of the globular tail of nuclear lamin.

PMID 10739764 2000 Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

PMID 11792809 2001 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

PMID 12032588 2002 The R249Q mutation is located within the central rod domain of the LMNA gene, and has been described in at least five unrelated sporadic EDMD2 patients.

PMID 12649505 2003 Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.

PMID 19524666 2009 Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations.

PMID 14684700 2003 Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.

PMID 18564364 2008 Laminopathies in Russian families.

PMID 22883396 2014 Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.

PMID 15372542 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

PMID 11503164 2001 Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

PMID 21632249 2011 Inflammatory changes in infantile-onset LMNA-associated myopathy.

PMID 15744034 2005 Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.

PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

PMID 27717888 2016 New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.

rs505058 in LMNA gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs878853220 in LMNA gene and Bradyarrhythmia (disorder) PMID 27717888 2016 New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.

rs56793579 in LMNA gene and Cardiomyopathies PMID 12015247 2002 Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.

PMID 12647844 2002 Post-mortem findings in familial partial lipodystrophy, Dunnigan variety.

PMID 20041886 2010 On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of congestive heart failure, dilated cardiomyopathy and conduction system disturbances.

PMID 23183350 2013 Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

rs111569862 in LMNA gene and Cardiomyopathy, Dilated PMID 18714801 2008 A novel mutation in a large French-Canadian family with LGMD1B.

PMID 27884249 2016 Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers.

PMID 16715312 2006 Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE.

PMID 24058181 2014 Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects.

PMID 24001739 2013 The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins.

PMID 19875404 2009 The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.

PMID 17987279 2008 Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia.

PMID 21840938 2011 MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy.

PMID 18585512 2008 Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

PMID 20160190 2010 Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

PMID 22177269 2012 Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.

PMID 18646565 2007 Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

PMID 28679633 2017 Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 8621584 1996 An alternative splicing product of the lamin A/C gene lacks exon 10.

PMID 14684700 2003 Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.

PMID 18337098 2008 Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation.

PMID 10662742 2000 Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.

PMID 18816602 2008 A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.

PMID 23977161 2013 Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.

PMID 19328042 2009 A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death.

PMID 11792810 2001 Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.

PMID 15972724 2005 Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

PMID 18035086 2007 High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

PMID 11792809 2001 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

PMID 10580070 1999 Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

PMID 11561226 2001 Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

PMID 18606848 2008 Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.

PMID 12920062 2003 Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

PMID 17334235 2007 Lamin AC mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans.

PMID 18926329 2008 Long-term outcome and risk stratification in dilated cardiolaminopathies.

PMID 18795223 2009 Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.

PMID 22266370 2012 Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 23183350 2013 Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

PMID 22224630 2012 Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.

PMID 24846508 2014 Lamin A/C mutations in dilated cardiomyopathy.

PMID 27723096 2017 Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly.

PMID 23853504 2013 Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

PMID 27585670 2017 Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del.

PMID 29237675 2017 Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.

PMID 29149195 2017 Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations.

PMID 16407522 2006 Primary prevention of sudden death in patients with lamin A/C gene mutations.

PMID 21632249 2011 Inflammatory changes in infantile-onset LMNA-associated myopathy.

PMID 16386954 2006 Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers.

PMID 20576434 2010 Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.

PMID 16990647 2006 Abstracts from the 11th Annual Meeting of the ECCR (European Council for Cardiovascular Research), Nice, France, 29 September-1 October 2006.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 21483645 2011 Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

PMID 12032588 2002 Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.

PMID 10814726 2000 Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

PMID 23360689 2013 Cardioembolic stroke related to limb-girdle muscular dystrophy 1B.

PMID 11138304 2000 High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation.

PMID 11897440 2002 Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

PMID 19318026 2009 Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.

PMID 19167105 2010 Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.

PMID 14675861 2003 Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.

PMID 18031519 2008 Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation.

PMID 15372542 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

PMID 24915601 2014 Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.

PMID 17377071 2007 Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

PMID 28798025 2017 Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.

PMID 16156025 2005 Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1.

PMID 21689390 2011 Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy.

PMID 16537768 2006 Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy.

PMID 12714972 2003 Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

PMID 10908904 2000 Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.

PMID 20848652 2011 Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

PMID 11503164 2001 Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

PMID 10939567 2000 Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

PMID 20497714 2010 Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block.

PMID 16266469 2005 [A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy].

PMID 17386158 2007 [Effects of a novel familial dilated cardiomyopathy associated LMNA gene mutation E82K on cell cycle of HEK293 cells].

PMID 21151901 2010 LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice.

PMID 20155465 2010 Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype.

PMID 16630578 2006 Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.

PMID 27886618 2017 Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy.

PMID 23142632 2013 Disease-associated mutations in the coil 2B domain of human lamin A/C affect structural properties that mediate dimerization and intermediate filament formation.

PMID 29382405 2018 Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia.

PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

PMID 26383716 2015 Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification.

PMID 28790152 2017 Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.

PMID 19882644 2010 Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.

PMID 19638735 2009 Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia.

PMID 21315846 2011 Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia.

PMID 10080180 1999 Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

PMID 23427149 2013 Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.

PMID 24375749 2014 Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.

PMID 18564364 2008 Laminopathies in Russian families.

PMID 16965317 2006 The laminopathies: a clinical review.

PMID 23062543 2012 Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy.

PMID 29943882 2018 The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.

PMID 22019351 2012 Novel c.367_369del LMNA mutation manifesting as severe arrhythmias, dilated cardiomyopathy, and myopathy.

rs1057515421 in LMNA gene and Cardiomyopathy, Familial Idiopathic PMID 10580070 1999 Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

PMID 27760138 2016 Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.

PMID 15372542 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

PMID 11897440 2002 Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

PMID 11561226 2001 Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

PMID 12628721 2003 Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

PMID 12486434 2002 A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.

PMID 11792809 2001 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

PMID 12920062 2003 Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

PMID 18606848 2008 Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PMID 15140538 2004 A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.

PMID 15219508 2004 Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

PMID 16061563 2005 In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.

PMID 19167105 2010 Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.

PMID 14675861 2003 Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.

PMID 14684700 2003 Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.

PMID 20160190 2010 Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 18585512 2008 Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

PMID 18646565 2007 Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

PMID 23183350 2013 Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

PMID 22177269 2012 The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C).

PMID 24623722 2014 Systematic identification of pathological lamin A interactors.

PMID 24375749 2014 Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 12920062 2003 A new missense (E161K) mutation was identified in a family with early atrial fibrillation and a previously described (R377H) mutation in another family with a quadriceps myopathy associated with DCM.

PMID 11897440 2002 Five novel LMNA mutations (K97E, E111X, R190W, E317K, four base pair insertion at 1,713 cDNA) were identified in five cases of familial autosomal dominant DCM with AVB (5/15: 33%).

PMID 18564364 2008 Laminopathies in Russian families.

PMID 18035086 2007 High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

PMID 18031519 2008 Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation.

PMID 16061563 2005 We found that end stage DCM patients carrying LMNA mutations displayed either dramatic ultrastructural changes of the cardiomyocyte nucleus (D192G) or nonspecific changes (R541S).

PMID 21085127 2011 A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.

PMID 16061563 2005 We found that end stage DCM patients carrying LMNA mutations displayed either dramatic ultrastructural changes of the cardiomyocyte nucleus (D192G) or nonspecific changes (R541S).

PMID 11897440 2002 Five novel LMNA mutations (K97E, E111X, R190W, E317K, four base pair insertion at 1,713 cDNA) were identified in five cases of familial autosomal dominant DCM with AVB (5/15: 33%).

PMID 12628721 2003 Mutations in LMNA were detected in four families (8%), three with familial (R89L, 959delT, R377H) and one with sporadic DCM (S573L).

PMID 11897440 2002 Five novel LMNA mutations (K97E, E111X, R190W, E317K, four base pair insertion at 1,713 cDNA) were identified in five cases of familial autosomal dominant DCM with AVB (5/15: 33%).

PMID 15140538 2004 A novel mutation S143P in the lamin A/C gene was found to be common among Finnish DCM patients.

rs56851164 in LMNA gene and Cardiomyopathy, Hypertrophic, Familial PMID 16407522 2006 Primary prevention of sudden death in patients with lamin A/C gene mutations.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 16585054 2006 Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

rs142000963 in LMNA gene and Charcot-Marie-Tooth Disease PMID 18478590 2008 Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

rs59885338 in LMNA gene and Charcot-Marie-Tooth disease, Type 2B1 PMID 17347251 2007 Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

PMID 18549403 2008 Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

PMID 11799477 2002 Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

PMID 17536044 2007 Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

PMID 14607793 2004 Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

rs199474724 in LMNA gene and Emery-Dreifuss Muscular Dystrophy 3 PMID 27234031 2017 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

PMID 22431096 2012 Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

rs11575937 in LMNA gene and Familial Partial Lipodystrophy, Type 2 PMID 19220582 2009 The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.

PMID 15372542 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

PMID 12196663 2002 Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.

PMID 17250669 2007 Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).

PMID 10655060 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

PMID 11792809 2001 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

PMID 10739751 2000 Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.

PMID 24485160 2014 LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.

PMID 12629077 2003 A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.

PMID 12015247 2002 Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.

PMID 10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

PMID 21346069 2011 A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A.

PMID 17711925 2007 New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.

rs397517906 in LMNA gene and Familial dilated cardiomyopathy PMID 30402260 2018 Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

PMID 30765282 2019 Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics.

rs1060502211 in LMNA gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 23183350 2013 Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

PMID 20980393 2010 Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.

PMID 19201734 2009 The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.

PMID 10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

PMID 23313286 2013 Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.

PMID 20130076 2010 LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.

PMID 24508248 2014 Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.

PMID 18551513 2008 De novo LMNA mutations cause a new form of congenital muscular dystrophy.

PMID 20848652 2011 Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

PMID 24806962 2014 Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.

PMID 26098624 2015 Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.

PMID 21632249 2011 Inflammatory changes in infantile-onset LMNA-associated myopathy.

PMID 24656463 2014 Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations.

PMID 20886652 2010 "Two children with ""dropped head"" syndrome due to lamin A/C mutations."

PMID 22491857 2012 Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy.

PMID 26034236 2015 Infantile-onset LMNA-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy.

PMID 27876398 2017 Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

PMID 23804595 2013 Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.

PMID 20662858 2010 Autosomal recessive LMNA mutation causing restrictive dermopathy.

PMID 14684700 2003 Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.

PMID 19842191 2009 Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.

PMID 24623722 2014 Systematic identification of pathological lamin A interactors.

PMID 25163546 2015 Atlas of the clinical genetics of human dilated cardiomyopathy.

PMID 22883396 2014 Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.

PMID 19524666 2009 Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations.

PMID 10739764 2000 Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

PMID 18585512 2008 Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

PMID 18926329 2008 Long-term outcome and risk stratification in dilated cardiolaminopathies.

PMID 20627339 2011 N-terminal Pro brain natriuretic peptide is a reliable biomarker of reduced myocardial contractility in patients with lamin A/C gene mutations.

PMID 22071332 2012 Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement.

PMID 27421120 2016 The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca2+ handling.

PMID 17987279 2008 Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia.

PMID 28620495 2017 Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation.

PMID 24080738 2013 Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA.

PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

PMID 18035086 2007 High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

PMID 22700598 2012 Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.

PMID 15219508 2004 Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

PMID 28641778 2017 Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 29770364 2017 Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.

PMID 29211919 2018 Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases.

PMID 19638735 2009 Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia.

PMID 26084686 2015 Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.

PMID 20160190 2010 Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

PMID 23701190 2013 Structural alterations of Lamin A protein in dilated cardiomyopathy.

PMID 24386194 2013 Viscoelastic behavior of human lamin A proteins in the context of dilated cardiomyopathy.

PMID 26899768 2016 Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.

PMID 18795223 2009 Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.

PMID 28416588 2017 Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.

PMID 11897440 2002 Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 18646565 2007 Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

PMID 23582089 2013 Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy.

PMID 22177269 2012 Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.

PMID 15678000 2005 [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].

PMID 19446900 2009 Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation.

PMID 24915601 2014 Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 10939567 2000 Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

PMID 11973618 2002 Emery-Dreifuss muscular dystrophy.

PMID 22186027 2012 LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.

PMID 25996830 2015 Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway.

PMID 19875404 2009 The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.

PMID 24861648 2014 p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities.

PMID 19875478 2009 Atypical progeroid syndrome due to heterozygous missense LMNA mutations.

PMID 25886484 2015 A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case.

PMID 24375749 2014 Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 19328042 2009 A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death.

PMID 11792809 2001 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

PMID 21173262 2011 Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement.

PMID 11792810 2001 Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.

PMID 23427149 2013 Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.

PMID 12783988 2003 Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo.

PMID 29432544 2018 Biomechanical defects and rescue of cardiomyocytes expressing pathologic nuclear lamins.

PMID 22224630 2012 Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.

PMID 27723096 2017 Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly.

PMID 12673789 2003 Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.

PMID 16386954 2006 Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers.

PMID 21840938 2011 MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy.

PMID 15053843 2004 Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation.

PMID 12628721 2003 Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

PMID 29095976 2018 Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.

PMID 29367541 2017 Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PMID 25469153 2014 A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

PMID 15724423 2005 [Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation].

PMID 14675861 2003 Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.

PMID 16218190 2005 Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy.

PMID 18031519 2008 Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation.

PMID 18564364 2008 Laminopathies in Russian families.

PMID 16061563 2005 In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.

PMID 27506821 2016 Multicenter Experience With Catheter Ablation for Ventricular Tachycardia in Lamin A/C Cardiomyopathy.

PMID 17377071 2007 Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

PMID 10080180 1999 Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

PMID 19084400 2009 Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

PMID 18604166 2008 The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation.

PMID 19933576 2010 Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.

PMID 25324471 2014 Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics.

PMID 25823658 2015 Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins.

PMID 12075506 2002 Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

PMID 14627682 2003 Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.

PMID 23702046 2013 LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies.

PMID 22893709 2012 Expression of the Hutchinson-Gilford progeria mutation during osteoblast development results in loss of osteocytes, irregular mineralization, and poor biomechanical properties.

PMID 28679633 2017 Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.

PMID 25567453 2014 Progerin expression disrupts critical adult stem cell functions involved in tissue repair.

PMID 24305605 2014 Embryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin development.

PMID 23969228 2013 Identification of mitochondrial dysfunction in Hutchinson-Gilford progeria syndrome through use of stable isotope labeling with amino acids in cell culture.

PMID 12714972 2003 Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

PMID 15982412 2005 Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress.

PMID 21875900 2011 A conserved splicing mechanism of the LMNA gene controls premature aging.

PMID 19172989 2009 Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging.

PMID 14749366 2004 Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts.

PMID 1839274 1991 Contact sensitivity to phenylbutazone (Butazolidine) cream.

PMID 18551515 2008 Bayesian latent class models with conditionally dependent diagnostic tests: a case study.

PMID 18396274 2008 Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects.

PMID 22199124 2012 Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.

PMID 16537768 2006 Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy.

PMID 26199943 2015 Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.

PMID 16630578 2006 Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.

PMID 20155465 2010 Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype.

PMID 20497714 2010 Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block.

PMID 21151901 2010 LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice.

PMID 17605093 2007 Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.

PMID 17347251 2007 Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

PMID 18549403 2008 Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

PMID 14607793 2004 Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

PMID 12015247 2002 Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.

PMID 17711925 2007 New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.

PMID 11561226 2001 Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

PMID 23362510 2012 Modeling of lamin A/C mutation premature cardiac aging using patient‐specific induced pluripotent stem cells.

PMID 24237251 2014 Evolution of a genetic diagnosis.

PMID 2280636 1990 [Urinary incontinence in women is treated differently depending on the type].

PMID 16174718 2005 Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation.

PMID 11503164 2001 Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

PMID 14615128 2003 LMNA mutations in atypical Werner's syndrome.

PMID 12927431 2003 LMNA mutations in atypical Werner's syndrome.

PMID 12629077 2003 A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.

PMID 15372542 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

PMID 21653823 2011 A laminopathic mutation disrupting lamin filament assembly causes disease-like phenotypes in Caenorhabditis elegans.

PMID 12467752 2002 Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.

PMID 22090424 2012 DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.

PMID 10580070 1999 Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

PMID 18606848 2008 Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.

PMID 10612827 2000 UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

PMID 10814726 2000 Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

PMID 24990833 2014 [Case with Emery-Dreifuss muscular dystrophy diagnosed forty-two years after onset and implanted with a cardiac resynchronization therapy defibrillator].

PMID 27220833 2016 An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles.

PMID 26443318 2015 Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.

PMID 23062543 2012 Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy.

PMID 29943882 2018 The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.

PMID 29237675 2017 Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.

PMID 28878402 2017 Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.

rs11575937 in LMNA gene and Hyperglycemia PMID 10739751 2000 Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.

PMID 16364671 2006 Laminopathies: multisystem dystrophy syndromes.

PMID 10868844 2000 Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance.

PMID 10999845 2000 Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.

PMID 23853504 2013 Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

PMID 23313286 2013 Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.

PMID 10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

PMID 19201734 2009 The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.

PMID 22700598 2012 Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.

PMID 10655060 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

PMID 16415042 2006 Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.

PMID 2007407 1991 Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase.

PMID 15219508 2004 Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

PMID 24080738 2013 Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA.

PMID 20074070 2010 Genotype-phenotype correlations in laminopathies: how does fate translate?

PMID 2270059 1990 Diagnostic validity of the MAST and the alcohol dependence scale in the assessment of DSM-III alcohol disorders.

rs112941217 in LMNA gene and Ischemic cardiomyopathy PMID 30251476 2019 Identification of a 3'-Untranslated Genetic Variant of RARB Associated With Carotid Intima-Media Thickness in Rheumatoid Arthritis: A Genome-Wide Association Study.

rs878853220 in LMNA gene and Lumbar hyperlordosis PMID 27717888 2016 New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.

rs121912495 in LMNA gene and MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) PMID 18551513 2008 De novo LMNA mutations cause a new form of congenital muscular dystrophy.

rs58932704 in LMNA gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

rs58922911 in LMNA gene and Malouf syndrome PMID 17150192 2007 Collagen expression in fibroblasts with a novel LMNA mutation.

PMID 12927431 2003 LMNA mutations in atypical Werner's syndrome.

PMID 19283854 2009 Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.

rs57520892 in LMNA gene and Mandibuloacral dysostosis PMID 12075506 2002 Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

PMID 15998779 2005 A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.

PMID 16278265 2006 A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.

rs11575937 in LMNA gene and Monogenic diabetes PMID 16415042 2006 Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.

PMID 16364671 2006 Laminopathies: multisystem dystrophy syndromes.

PMID 10868844 2000 Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance.

PMID 10739751 2000 Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.

PMID 23853504 2013 Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

PMID 10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

PMID 22700598 2012 Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.

PMID 19201734 2009 The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.

PMID 2007407 1991 Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase.

PMID 10655060 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

PMID 23313286 2013 Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.

PMID 10999845 2000 Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.

PMID 15219508 2004 Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

PMID 20074070 2010 Genotype-phenotype correlations in laminopathies: how does fate translate?

PMID 2270059 1990 Diagnostic validity of the MAST and the alcohol dependence scale in the assessment of DSM-III alcohol disorders.

PMID 24080738 2013 Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA.

rs267607581 in LMNA gene and Neuromuscular Diseases PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 28679633 2017 Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.

PMID 8621584 1996 An alternative splicing product of the lamin A/C gene lacks exon 10.

PMID 18714801 2008 A novel mutation in a large French-Canadian family with LGMD1B.

PMID 15678000 2005 [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].

PMID 19446900 2009 Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation.

PMID 28798025 2017 Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.

PMID 24915601 2014 Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.

PMID 17377071 2007 Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

rs10737170 in LMNA gene and Parkinson Disease PMID 24842889 2014 Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.

rs878853220 in LMNA gene and Premature ventricular contractions PMID 27717888 2016 New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.

rs113436208 in LMNA gene and Progeria PMID 17469202 2007 Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.

PMID 23804595 2013 In contrast to reported RD patients with LMNA mutations, LMNA p.R435C is not located at the cleavage site necessary for processing of prelamin A by ZMPSTE24 and leads to a distinct phenotype combining clinical features of Restrictive Dermopathy, Mandibuloacral Dysplasia and Hutchinson-Gilford Progeria.

PMID 15317753 2004 Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

PMID 24639906 2014 Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.

PMID 15622532 2005 p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.

PMID 12927431 2003 LMNA mutations in atypical Werner's syndrome.

PMID 22355414 2012 Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.

PMID 23666920 2013 LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.

PMID 15060110 2004 Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.

PMID 12714972 2003 Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

PMID 21791255 2012 Here we present a four-year-old HGPS patient who presented several severe strokes and carried a heterozygous LMNA missense mutation in exon 2: p.Glu138Lys.

PMID 15286156 2004 Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.

PMID 19933576 2010 Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.

PMID 12768443 2003 LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

PMID 21791255 2012 LMNA mutation in progeroid syndrome in association with strokes.

PMID 23497705 2013 Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports.

PMID 12702809 2003 Lamin a truncation in Hutchinson-Gilford progeria.

PMID 17076270 2006 Altered splicing in prelamin A-associated premature aging phenotypes.

PMID 15622532 2005 We identified the underlying cause to be a hitherto unreported de novo missense mutation in the LMNA gene (S143F) encoding the nuclear envelope proteins lamins A and C. Although LMNA mutations have been known to cause Hutchinson-Gilford progeria syndrome and Emery-Dreifuss muscular dystrophy, this is the first report of a patient combining features of these two phenotypes because of a single mutation in LMNA.

PMID 15121795 2004 LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.

PMID 23659872 2013 A novel lamin A/C mutation in a Dutch family with premature atherosclerosis.

PMID 24687084 2014 A new lamin a mutation associated with acrogeria syndrome.

PMID 22065502 2011 Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

rs112941217 in LMNA gene and Rheumatoid Arthritis PMID 30251476 2019 Identification of a 3'-Untranslated Genetic Variant of RARB Associated With Carotid Intima-Media Thickness in Rheumatoid Arthritis: A Genome-Wide Association Study.

rs878853220 in LMNA gene and Second degree atrioventricular block PMID 27717888 2016 New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.

rs7542186 in LMNA gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs584025 in LMNA gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.