Mutations in SURF1 are not specifically associated with Leigh syndrome

J Med Genet. 2001 Feb;38(2):109-13. doi: 10.1136/jmg.38.2.109.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Base Sequence
  • Child, Preschool
  • Cytochrome-c Oxidase Deficiency
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Growth Disorders / pathology
  • Humans
  • Hypertrichosis / pathology
  • Infant
  • Leigh Disease / genetics*
  • Membrane Proteins
  • Mitochondrial Proteins
  • Mutation
  • Point Mutation
  • Proteins / genetics*
  • Sequence Deletion

Substances

  • Membrane Proteins
  • Mitochondrial Proteins
  • Proteins
  • Surf-1 protein
  • DNA