A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome

Am J Med Genet A. 2006 Feb 15;140(4):392-7. doi: 10.1002/ajmg.a.31079.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Deafness / genetics*
  • Dystonia / genetics*
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Mitochondrial Membrane Transport Proteins*
  • Mutation / genetics*
  • Pedigree
  • Spain
  • Syndrome

Substances

  • Membrane Transport Proteins
  • Mitochondrial Membrane Transport Proteins
  • TIMM8A protein, human