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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
DOK7 mutations presenting as a proximal myopathy in French Canadians
Neuromuscular Disorders, Volume 20, No. 7, Year 2010
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Description
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 of 42. kb surrounding DOK7 in our cohort and in 9 patients of various European origins demonstrated a shared haplotype suggesting a common ancestral European mutation. In our cohort, fatigability was not prominent; rather patients reported prolonged periods of increased weakness. Abnormalities on repetitive nerve stimulation and single fiber EMG were not invariably present. There was considerable intra-familial phenotypic variability, and we report an asymptomatic individual. DOK7 mutations should be considered in patients with early-onset myopathy, even in the absence of symptoms suggesting a possible myasthenia. © 2010 Elsevier B.V.
Authors & Co-Authors
Srour, Myriam
Canada, Montreal
University of Montreal
Bolduc, Véronique
Canada, Montreal
University of Montreal
Guergueltcheva, Velina N.
Germany, Munich
Ludwig-maximilians-universität München
Lochmüller, Hanns
United Kingdom, Newcastle
Newcastle University
Shevell, Michael Israel
Canada, Montreal
Université Mcgill
Bouchard, Jean Pierre
Canada, Quebec
Université Laval
Brais, Bernard
Canada, Montreal
University of Montreal
Statistics
Citations: 21
Authors: 7
Affiliations: 5
Identifiers
Doi:
10.1016/j.nmd.2010.05.007
ISSN:
09608966
Research Areas
Cancer
Genetics And Genomics
Study Design
Cohort Study