Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.

doi:10.1212/wnl.42.11.2168

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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...

Topics

Adenosine Triphosphatases
Blotting, Southern
DNA, Mitochondrial
Female
Humans
Infant
Leigh Disease
Muscles
Mutation
Oxidative Phosphorylation
Pedigree
Polymerase Chain Reaction

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