Centronuclear myopathy with unusual clinical picture

Eur Neurol. 1987;26(3):153-60. doi: 10.1159/000116328.

Abstract

The authors describe two cases of familial muscle disease, a mother and her daughter, characterized by centrally placed nuclei and a predominance of hypotrophic type 1 fibers. Clinically the patients exhibited a muscular weakness and atrophy localized mainly distally. Both showed hypertrophy of their calves. The nosological classification of the cases is uncertain; however, both are considered as examples of centronuclear myopathy with unusual clinical features.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cell Nucleus / pathology
  • Female
  • Humans
  • Middle Aged
  • Muscles / pathology*
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology