Article
Different early pathogenesis in myotilinopathy compared to primary desminopathy.
Neuromuscular disorders : NMD - 1 Jun 2006
Fischer Dirk, Clemen Christoph S, Olivé Montse, Ferrer Isidro, Goudeau Bertrand, Roth Udo, Badorf Petra, Wattjes Mike P, Lutterbey Götz, Kral Thomas, van der Ven Peter F M, Fürst Dieter O, Vicart Patrick, Goldfarb Lev G, Moza Monica, Carpen Olli, Reichelt Julia, Schröder Rolf
Abstract excerpt
Mutations in the human myotilin gene may cause limb-girdle muscular dystrophy 1A and myofibrillar myopathy. Here, we describe a German patient with the clinically distinct disease phenotype of late adult onset distal anterior leg myopathy caused by a heterozygous S55F myotilin mutation. In addition to a thorough morphological and clinical analysis, we performed for the first time a protein chemical analysis and...
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