Familial inclusion body myositis: evidence for autosomal dominant inheritance

Neurology. 1992 Apr;42(4):897-902. doi: 10.1212/wnl.42.4.897.

Abstract

We report a kindred manifesting clinical features and muscle biopsy findings of inclusion body myositis (IBM). In this family, multiple members were affected in two generations with direct male-to-male and female-to-male transmission. This is the first reported instance of autosomal dominant inheritance in IBM, which usually occurs sporadically or, rarely, may be transmitted as an autosomal recessive disorder.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Biopsy
  • Female
  • Genes, Dominant*
  • Histocytochemistry
  • Humans
  • Inclusion Bodies / ultrastructure*
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Muscles / metabolism
  • Muscles / pathology
  • Myositis / genetics*
  • Myositis / metabolism
  • Myositis / pathology