Condition: Congenital myasthenic syndrome ib


rs118203994 in DOK7 gene and Congenital myasthenic syndrome ib PMID 17439981 2007 Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

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

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

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

PMID 20603078 2010 The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.

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

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

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

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

PMID 2261499 1990 Rheological aspects of red blood cell aggregation.

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

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 21850686 2011 Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.

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

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

PMID 19837590 2009 Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs1286619522 in DOK7;LOC105374355 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 20603078 2010 The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.

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

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

PMID 17439981 2007 Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

rs1429428597 in LOC105374355;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 20012313 2010 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

PMID 17439981 2007 Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

PMID 20603078 2010 The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.

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