Becker-type muscular dystrophy. Report of a family with one postmortem study

Clin Neurol Neurosurg. 1992:94 Suppl:S123-6. doi: 10.1016/0303-8467(92)90045-5.

Abstract

Becker-type muscular dystrophy (BMD) is reported in two brothers. In one of the patients, the molecular demonstration of an in-frame deletion of exons 45, 46 and 47 has confirmed the clinical and pathological diagnosis of BMD. The autopsy of the other patient revealed mild neuronal losses in the anterior horns at C8, lumbar and sacral levels of the spinal cord. Mild neuronal losses in the spinal cord may explain the mixed type of neurogenic-myogenic features in the skeletal muscles of adult BMD patients.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Deletion
  • Exons / genetics
  • Genetic Linkage / genetics
  • Humans
  • Male
  • Microscopy, Electron
  • Muscles / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Neurologic Examination
  • Pedigree
  • Sex Chromosome Aberrations / genetics
  • Spinal Cord / pathology
  • X Chromosome