Condition: Myasthenic Syndromes, Congenital


rs199476396 in AGRN gene and Myasthenic Syndromes, Congenital PMID 19631309 2009 Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

PMID 22205389 2012 LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.

PMID 24951643 2014 Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

rs763258280 in C17orf107;CHRNE gene and Myasthenic Syndromes, Congenital PMID 10534268 1999 A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.

PMID 15322984 2004 Mutation history of the roma/gypsies.

PMID 15951177 2005 126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

PMID 21150643 2011 Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

PMID 27717316 2016 A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.

PMID 9158150 1997 Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.

rs201479289 in CHAT gene and Myasthenic Syndromes, Congenital PMID 26080897 2015 Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.

PMID 21786365 2011 Functional consequences and structural interpretation of mutations of human choline acetyltransferase.

rs762368691 in CHRNE;C17orf107 gene and Myasthenic Syndromes, Congenital PMID 29383513 2018 A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

PMID 20562457 2010 Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.

PMID 29054425 2017 Molecular characterization of congenital myasthenic syndromes in Spain.

PMID 9708546 1998 Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.

rs769982050 in COLQ gene and Myasthenic Syndromes, Congenital PMID 24281389 2014 COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.

PMID 9689136 1998 Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.

PMID 22678886 2012 Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.

rs606231128 in DOK7 gene and Myasthenic Syndromes, Congenital PMID 16917026 2006 Dok-7 mutations underlie a neuromuscular junction synaptopathy.

PMID 22230109 2012 186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.

PMID 19261599 2009 Germline mutation in DOK7 associated with fetal akinesia deformation sequence.

rs104894299 in RAPSN gene and Myasthenic Syndromes, Congenital PMID 12807980 2003 Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

PMID 14729848 2004 Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.

PMID 12651869 2003 E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.

PMID 15482960 2004 A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

rs121908553 in SCN4A gene and Myasthenic Syndromes, Congenital PMID 12766226 2003 Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

PMID 26659129 2016 A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.