Autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein matrin 3
J Senderek, SM Garvey, M Krieger, I Tournev, M Elbracht, A Roos, C Stendel, A Uritzberea, V Guergueltcheva, V Mihailova, H Feit, J Tramonte, P Hedera, C Bergmann, S Rudnik-Schöneborn, K Zerres, H Lochmüller, E Seboun, JS Beckmann, MA Hauser, CE Jackson, J Weis · Aktuelle Neurologie · 2009 · Heft 10
Bibliografische Angaben
Zusammenfassung
Inherited distal myopathies represent a heterogeneous group of 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 recently identified a second large VCPDM family of Bulgarian descent and performed fine mapping of the critical interval. Sequencing of positional candidate genes revealed precisely the same non-conservative S85C missense mutation affecting an interspecies conserved resi…
