Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy.
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.
Goebel
H H
HH
Division of Neuropathology, Johannes-Gutenberg University, Mainz/Germany.
Voit
T
T
Warlo
I
I
Jacobs
K
K
Johannsen
U
U
Müller
C R
CR
D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000473:pathology; D003893:Desmin / Q000032:analysis*; D016189:Dystrophin / Q000032:analysis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology
D003893:Desmin; D016189:Dystrophin