Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I

Clin Genet. 2014 Jul;86(1):99-101. doi: 10.1111/cge.12248. Epub 2013 Sep 11.
No abstract available

Publication types

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

MeSH terms

  • Azo Compounds
  • Brain / pathology
  • Child
  • Electron Transport Complex I / deficiency*
  • Electron Transport Complex I / genetics
  • Female
  • Genetic Association Studies
  • Humans
  • Infant
  • Leigh Disease / genetics*
  • Leigh Disease / pathology
  • Magnetic Resonance Imaging
  • Male
  • Mitochondrial Diseases / genetics*
  • Muscle, Skeletal / pathology
  • NADH Dehydrogenase / genetics*
  • Sequence Deletion / genetics*

Substances

  • Azo Compounds
  • NADH Dehydrogenase
  • Electron Transport Complex I
  • NDUFS4 protein, human
  • oil red O

Supplementary concepts

  • Mitochondrial complex I deficiency