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Case Reports
. 1994 Jun-Jul;150(6-7):452-9.

Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy

H H Goebel  1 , T Voit, I Warlo, K Jacobs, U Johannsen, C R Müller
Affiliations
  • PMID: 7747013
Case Reports

Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy

H H Goebel et al. Rev Neurol (Paris). 1994 Jun-Jul.

Abstract

A 52-year-old man had a cardiomyopathy for 22 years as had his brother. Both required pacemakers. For the past 12 years, he also suffered from increasing muscle weakness. His muscle fibres contained granulo-filamentous material as previously seen in muscle fibres of a French family with myopathy and cardiomyopathy. It was rich in desmin, alpha-B crystallin, and dystrophin, the connotation, pathogenesis, and common denominator of which, however, remain unexplained.

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