Abstract
Distal myopathies represent a heterogeneous group of inherited skeletal muscle disorders. One type of adult-onset, progressive autosomal dominant distal myopathy, frequently associated with dysphagia and dysphonia, has been mapped to chromosome 5q31 in a North American pedigree (vocal cord and pharyngeal weakness with distal myopathy; VCPDM). We report the identification of a second large VCPDM family of Bulgarian descent and fine mapping of the critical interval. Sequencing of positional candidate genes revealed precisely the same non-conservative S85C missense mutation affecting an interspecies conserved residue in the MATR3 gene in both families.
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