Mitochondrial DNA mutations and neuromuscular disease

Trends Genet. 1989 Jan;5(1):9-13. doi: 10.1016/0168-9525(89)90005-x.

Abstract

Mitochondrial DNA mutations have been identified in patients with certain neuromuscular diseases. Point mutations have been associated with maternally inherited diseases, while deletions have been identified in some 'spontaneous' cases.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Amino Acid Sequence
  • Animals
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • NADH Dehydrogenase / genetics
  • Neuromuscular Diseases / genetics*

Substances

  • DNA, Mitochondrial
  • NADH Dehydrogenase