Variant: rs606231128 

    present in Gene: DOK7
    present in Chromosome: 4
    Position on Chromosome: 3493106
    Alleles of this Variant: -/TGCC

rs606231128 in DOK7 gene and Congenital myasthenic syndrome ib PMID 22661499 2012 The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

PMID 23219351 2013 Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

PMID 18165682 2008 Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

PMID 2261499 1990 Rheological aspects of red blood cell aggregation.

PMID 23790237 2013 Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.

PMID 18626973 2008 Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

PMID 20012313 2010 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

PMID 25237101 2014 Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.

PMID 20458068 2010 Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

PMID 17452375 2007 Clinical features of the DOK7 neuromuscular junction synaptopathy.

PMID 16917026 2006 Dok-7 mutations underlie a neuromuscular junction synaptopathy.

rs606231128 in DOK7 gene and Muscle hypotonia PMID 19261599 2009 Germline mutation in DOK7 associated with fetal akinesia deformation sequence.

PMID 21984750 2011 Fetal akinesia: review of the genetics of the neuromuscular causes.

PMID 16917026 2006 Dok-7 mutations underlie a neuromuscular junction synaptopathy.

PMID 20554332 2010 Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

PMID 18626973 2008 Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

PMID 20458068 2010 Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

PMID 23831158 2013 DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.

PMID 24425145 2014 Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.

PMID 24500997 2014 How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia.

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

PMID 22661499 2012 The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

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.

rs606231128 in DOK7 gene and Pena-Shokeir syndrome type I PMID 25237101 2014 Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.

PMID 20458068 2010 Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

PMID 20012313 2010 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

PMID 23219351 2013 Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

PMID 17452375 2007 Clinical features of the DOK7 neuromuscular junction synaptopathy.

PMID 23790237 2013 Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.

PMID 2261499 1990 Rheological aspects of red blood cell aggregation.

PMID 18165682 2008 Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

PMID 22661499 2012 The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

PMID 18626973 2008 Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

PMID 16917026 2006 Dok-7 mutations underlie a neuromuscular junction synaptopathy.