Electrophysiological findings in X-linked myopathy with excessive autophagy

Ann Neurol. 2002 May;51(5):648-52. doi: 10.1002/ana.10173.

Abstract

We report electrophysiological features and magnetic resonance imaging muscle findings in 4 patients and 1 female carrier of X-linked myopathy with excessive autophagy. Motor units were polyphasic with high mean amplitude and normal duration. The thigh muscles were most severely involved, but myotonic discharges were abundant in both clinically affected and unaffected muscles. Along with the clinicopathological features, these electrophysiological findings distinguish X-linked myopathy with excessive autophagy from other limb-girdle myopathies.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Autophagy / genetics*
  • Electromyography
  • Electrophysiology
  • Female
  • Genetic Linkage / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Muscular Diseases / physiopathology*
  • Vacuoles / genetics
  • Vacuoles / pathology
  • X Chromosome*