title: Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy.
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.
authors.affiliation: Division of Neuropathology, Johannes-Gutenberg University, Mainz/Germany.
authors.forename: H H
authors.initials: HH
authors.lastname: Goebel
authors.forename: T
authors.initials: T
authors.lastname: Voit
authors.forename: I
authors.initials: I
authors.lastname: Warlo
authors.forename: K
authors.initials: K
authors.lastname: Jacobs
authors.forename: U
authors.initials: U
authors.lastname: Johannsen
authors.forename: C R
authors.initials: CR
authors.lastname: Müller
mesh_terms: 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
chemical_list: D003893:Desmin; D016189:Dystrophin