The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation

Alexandra Vrabie, Lev G Goldfarb, Alexey Shatunov, Andrea Nägele, Peter Fritz, Ingo Kaczmarek, Hans H Goebel

Research output: Contribution to journalArticlepeer-review

38 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)411-7
Number of pages7
JournalActa Neuropathologica
Volume109
Issue number4
DOIs
Publication statusPublished - Apr 2005

Keywords

  • Adult
  • Aspartic Acid
  • Cardiomyopathy, Restrictive
  • Chromosomes, Human, Pair 2
  • DNA Mutational Analysis
  • Desmin
  • Exons
  • Family Health
  • Glutamic Acid
  • Humans
  • Immunohistochemistry
  • Male
  • Middle Aged
  • Muscle, Skeletal
  • Mutation
  • Myocardium
  • Staining and Labeling
  • alpha-Crystallin B Chain
  • Comparative Study
  • Journal Article
  • Research Support, Non-U.S. Gov't

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