Article
Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.
Neurology - 1 Nov 1992
Shoffner J M, Fernhoff P M, Krawiecki N S, Caplan D B, Holt P J, Koontz D A, Takei Y, Newman N J, Ortiz R G, Polak M
Abstract excerpt
Subacute necrotizing encephalopathy (SNE) or Leigh's disease is associated with various defects in oxidative phosphorylation (OXPHOS). However, the relationships between these OXPHOS defects and nuclear DNA or mitochondrial DNA (mtDNA) mutations is still unclear. We evaluated three SNE pedigrees (two singleton cases and a pedigree) biochemically for OXPHOS abnormalities and genetically for four mtDNA point...
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