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

HH Goebel, T Voit, I Warlo, K Jacobs… - Revue …, 1994 - europepmc.org
HH Goebel, T Voit, I Warlo, K Jacobs, U Johannsen, CR Müller
Revue neurologique, 1994europepmc.org
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.
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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