title: The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.
abstract: A 52-year-old man, who had developed distal muscle weakness in legs and arms, was found to have distal muscle atrophy as well as cardiac arrhythmia. His 10-year younger brother developed restrictive cardiomyopathy at the age of 20 years, which required cardiac transplantation at the age of 41 years. Skeletal muscle biopsy specimens of the older brother revealed granulofilamentous material and plaques containing numerous proteins, foremost desmin, as did cardiac biopsy tissue. The explanted heart of the younger brother showed similar protein-rich plaques and granulofilamentous material within cardiac myocytes. A novel heterozygous Glu245Asp (E245D) missense mutation in exon 3 of the desmin gene (DES) at 2q35 was found in the older brother. While clinical data and muscle biopsy pathology of the older brother conform to the nosological spectrum of desminopathies, the early-onset cardiomyopathy, a similar cardiac pathology as in skeletal muscle tissues and a novel missense mutation in the DES gene, enlarge the nosological spectrum of desminopathies.
authors.affiliation: Department of Neuropathology, Johannes Gutenberg University Medical Center, Langenbeckstrasse 1, 55101 Mainz, Germany.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Vrabie
authors.forename: Lev G
authors.initials: LG
authors.lastname: Goldfarb
authors.forename: Alexey
authors.initials: A
authors.lastname: Shatunov
authors.forename: Andrea
authors.initials: A
authors.lastname: Nägele
authors.forename: Peter
authors.initials: P
authors.lastname: Fritz
authors.forename: Ingo
authors.initials: I
authors.lastname: Kaczmarek
authors.forename: Hans H
authors.initials: HH
authors.lastname: Goebel
mesh_terms: D000328:Adult; D001224:Aspartic Acid / Q000235:genetics; D002313:Cardiomyopathy, Restrictive / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D002889:Chromosomes, Human, Pair 2; D004252:DNA Mutational Analysis / Q000379:methods; D003893:Desmin / Q000235:genetics*; D005091:Exons; D005192:Family Health; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D009154:Mutation; D009206:Myocardium / Q000378:metabolism / Q000473:pathology*; D013194:Staining and Labeling / Q000379:methods; D038203:alpha-Crystallin B Chain / Q000378:metabolism
chemical_list: D003893:Desmin; D038203:alpha-Crystallin B Chain; D001224:Aspartic Acid; D018698:Glutamic Acid