Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study

J Neurol. 2003 Dec;250(12):1498-500. doi: 10.1007/s00415-003-0246-6.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Apoptosis
  • Ataxia / etiology
  • Ataxia / genetics
  • Blotting, Southern
  • Brain / metabolism
  • Brain / pathology
  • Brain / physiopathology*
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • In Situ Nick-End Labeling
  • Leigh Disease / etiology
  • Leigh Disease / genetics
  • Magnetic Resonance Spectroscopy
  • Microscopy, Electron
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / physiopathology
  • Muscle Weakness / etiology
  • Muscle Weakness / genetics
  • Muscle, Skeletal / ultrastructure*
  • Pedigree
  • Phenotype
  • Point Mutation*
  • Polymorphism, Restriction Fragment Length
  • Retinitis Pigmentosa / etiology
  • Retinitis Pigmentosa / genetics

Substances

  • DNA, Mitochondrial