Article
The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.
Acta neuropathologica - 1 Apr 2005
Vrabie Alexandra, Goldfarb Lev G, Shatunov Alexey, Nägele Andrea, Fritz Peter, Kaczmarek Ingo, Goebel Hans H
Abstract excerpt
A 52-year-old man, who had developed distal muscle weakness in legs and arms, was found to have distal muscle atrophy as well as cardiac arrhythmia. His 10-year younger brother developed restrictive cardiomyopathy at the age of 20 years, which required cardiac transplantation at the age of 41 years. Skeletal muscle biopsy specimens of the older brother revealed granulofilamentous material and plaques containing...
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