An unusual case of muscular limb-girdle dystrophy and mitochondrial myopathy

Pathologica. 1994 Dec;86(6):649-51.

Abstract

Limb-girdle muscular weakness and wasting could be caused by different diseases (inflammatory and hereditary myopathies, muscular dystrophies and neurogenic atrophies). Among these, Limb-Girdle Muscular Dystrophy (LGMD) is an heterogeneous group of pathologies that have progressive proximal limbs and girdle weakness, with some dystrophic features by the muscle biopsy. We studied a case of LGMD in an adult man with a typical histological and histochemical profile, associated to a mitochondrial deficit characterized by presence of ragged-red fibers, a histochemical Cytochrome Oxidase deficiency and abnormal mitochondria by ultrastructure.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cytochrome-c Oxidase Deficiency
  • Humans
  • Male
  • Mitochondrial Myopathies / complications*
  • Mitochondrial Myopathies / pathology
  • Muscular Dystrophies / complications*
  • Muscular Dystrophies / pathology