Article
LGMD2E patients risk developing dilated cardiomyopathy.
Neuromuscular disorders : NMD - 1 May 2003
Fanin M, Melacini P, Boito C, Pegoraro E, Angelini C
Abstract excerpt
Sarcoglycan gene mutations cause various limb-girdle muscular dystrophies. The sarcoglycans are expressed both in skeletal and cardiac muscle but, surprisingly, so far only a few sarcoglycanopathy patients have had documented cardiomyopathy. We studied six patients with beta-sarcoglycanopathy. Immunohistochemical and immunoblot analysis performed on skeletal muscle biopsies from five patients, showed the loss of...
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