Article
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
Human molecular genetics - 15 Mar 2003
Schröder Rolf, Goudeau Bertrand, Simon Monique Casteras, Fischer Dirk, Eggermann Thomas, Clemen Christoph S, Li Zhenlin, Reimann Jens, Xue Zhigang, Rudnik-Schöneborn Sabine, Zerres Klaus, van der Ven Peter F M, Fürst Dieter O, Kunz Wolfram S, Vicart Patrick
Abstract excerpt
Recent studies in desmin (-/-) mice have shown that the targeted ablation of desmin leads to pathological changes of the extrasarcomeric intermediate filament cytoskeleton, as well as structural and functional abnormalities of mitochondria in striated muscle. Here, we report on a novel heterozygous single adenine insertion mutation (c.5141_5143insA) in a 40-year-old patient with a distal myopathy. The insertion...
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