Autosomal dominant humeroperoneal myopathy

Arch Neurol. 1986 Jul;43(7):734-5. doi: 10.1001/archneur.1986.00520070088026.

Abstract

Emery-Dreifuss muscular dystrophy is a syndrome with five salient features: early and unusual contractures; humeroperoneal muscle wasting; the slow progression of weakness, beginning in childhood; cardiac conduction defects; and X-linked inheritance. We present two cases and detail other reports with a similar constellation of findings with apparent autosomal dominant inheritance. We postulate separate genetic disorders with similar phenotypic expression.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Aberrations
  • Chromosome Disorders
  • Electromyography
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Heart Conduction System / physiopathology
  • Humans
  • Male
  • Muscles / physiopathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / physiopathology
  • Phenotype
  • Syndrome
  • X Chromosome