A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

Neurology. 2003 Jun 10;60(11):1857-61. doi: 10.1212/01.wnl.0000066048.72780.69.


A 13084 A->T missense mutation in the mitochondrial ND5 gene was identified in a 16-year-old boy affected with a progressive neurodegenerative disorder combining features of Leigh and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) syndromes. Muscle biopsy analysis revealed partial complex I deficiency. The mutation presented a variable degree of heteroplasmy in the patient's tissues. This finding underlines the contribution of mtDNA-encoded complex I subunits in the etiology of complex I deficiency associated with encephalopathy.

Publication types

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

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Base Sequence
  • Brain / pathology
  • Electron Transport Complex I / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Leigh Disease / diagnosis
  • Leigh Disease / genetics*
  • MELAS Syndrome / diagnosis
  • MELAS Syndrome / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mitochondrial Proteins / genetics*
  • Molecular Sequence Data
  • Mutation, Missense*
  • Sequence Alignment


  • Mitochondrial Proteins
  • ND5 protein, human
  • Electron Transport Complex I