Muscle fiber immaturity and inactivity reduce myonecrosis in Duchenne muscular dystrophy

Ann Neurol. 1998 Dec;44(6):967-71. doi: 10.1002/ana.410440618.

Abstract

We report on the first case of X-linked recessive myotubular myopathy (MTM1) coinciding with Duchenne muscular dystrophy (DMD). The muscle biopsy specimens of the patient show only the characteristic findings of MTM1, without the findings of DMD. We theorize that this was caused by the muscle fiber immaturity and inactivity.

Publication types

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

MeSH terms

  • Child, Preschool
  • Dystrophin / genetics
  • Dystrophin / metabolism
  • Gene Deletion
  • Genes, Recessive / genetics
  • Genetic Linkage / genetics*
  • Humans
  • Immunohistochemistry
  • Infant, Newborn
  • Male
  • Muscle Development
  • Muscle Fibers, Skeletal / enzymology
  • Muscle Fibers, Skeletal / pathology*
  • Muscles / pathology
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology*
  • Muscular Dystrophies / enzymology
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / pathology*
  • Necrosis
  • Pedigree
  • Protein Tyrosine Phosphatases / genetics
  • Protein Tyrosine Phosphatases, Non-Receptor
  • X Chromosome*

Substances

  • Dystrophin
  • Protein Tyrosine Phosphatases
  • Protein Tyrosine Phosphatases, Non-Receptor
  • myotubularin