Spinal muscular atrophy and mitochondrial DNA depletion. Response to Berber et al. (2003) Acta Neuropathol 105:245-251

Acta Neuropathol. 2003 Jun;105(6):621-2. doi: 10.1007/s00401-003-0699-9. Epub 2003 Apr 10.
No abstract available

Publication types

  • Case Reports
  • Kommentar
  • Letter

MeSH terms

  • Child
  • Creatine Kinase / metabolism
  • Cysteine / genetics
  • DNA, Mitochondrial / analysis*
  • Diagnosis, Differential
  • Electromyography / methods
  • Glycine / genetics
  • Humans
  • Lactase
  • Mitochondria, Muscle / metabolism*
  • Muscle, Skeletal / metabolism
  • Muscular Atrophy, Spinal / genetics*
  • Mutation
  • Succinate Dehydrogenase / metabolism
  • Thymidine Kinase / genetics
  • beta-Galactosidase / blood

Substances

  • DNA, Mitochondrial
  • Succinate Dehydrogenase
  • thymidine kinase 2
  • Thymidine Kinase
  • Creatine Kinase
  • Lactase
  • beta-Galactosidase
  • Cysteine
  • Glycine