Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy

Muscle Nerve. 2011 Oct;44(4):587-9. doi: 10.1002/mus.22179.

Abstract

The diagnosis of Emery-Dreifuss muscular dystrophy (EDMD) is suggested by the combination of musculoskeletal weakness and wasting, joint contractures, and cardiac disease. Herein we report a patient in whom an ischemic stroke prompted the diagnosis of EDMD. A mutation in the LMNA gene (c.266G>T, p.Arg89Leu) was found. It had been reported previously exclusively with isolated cardiac disease, thus reinforcing the high phenotypic heterogeneity of laminopathies.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Humans
  • Lamin Type A / genetics*
  • Male
  • Muscular Dystrophy, Emery-Dreifuss / genetics*
  • Muscular Dystrophy, Emery-Dreifuss / physiopathology
  • Mutation
  • Myocardial Ischemia / complications
  • Stroke / complications*
  • Stroke / etiology

Substances

  • LMNA protein, human
  • Lamin Type A