CareLit · DOI-Nachweis · Aktuelle Neurologie
Autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein matrin 3
DOI 10.1055/s-0029-1238491
Bibliografische Angaben
Nachweis in CareLit
Autor:innenJ 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
ZeitschriftAktuelle Neurologie
Ausgabe10/2009
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
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 an…
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Zitierempfehlung
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 (2009) Autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein matrin 3. Aktuelle Neurologie (10). https://doi.org/10.1055/s-0029-1238491
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