Importance of sequence analysis in NARP syndrome

J Inherit Metab Dis. 1995;18(1):97-8. doi: 10.1007/BF00711391.
No abstract available

MeSH terms

  • Ataxia / genetics*
  • Ataxia / metabolism
  • Blotting, Southern
  • DNA, Mitochondrial / analysis*
  • Humans
  • Mutation
  • Neuromuscular Diseases / genetics*
  • Neuromuscular Diseases / metabolism
  • Restriction Mapping
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / metabolism
  • Syndrome

Substances

  • DNA, Mitochondrial