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Article

DOK7 mutations presenting as a proximal myopathy in French Canadians.

Neuromuscular disorders : NMD - 1 Jul 2010

Srour Myriam, Bolduc Véronique, Guergueltcheva Velina, Lochmüller Hanns, Gendron Daniel, Shevell Michael I, Poulin Chantal, Mathieu Jean, Bouchard Jean-Pierre, Brais Bernard

Abstract excerpt

DOK7 mutations cause a congenital myasthenic syndrome (OMIM 254300) characterized by a "limb-girdle" phenotype. We identified 7 French-Canadian patients with a previously undiagnosed proximal myopathy. A genome wide scan was performed. Homozygosity mapping identified a locus on chromosome 4p16.2 containing DOK7. Sequencing of DOK7 revealed homozygous 1124_1127dupTGCC mutations in all individuals. SNP genotyping...

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Source

Identifiers

PMID: 20610155
DOI: 10.1016/j.nmd.2010.05.007

Genes

DOK7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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