Article
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.
Journal of neurology, neurosurgery, and psychiatry - 1 Jul 1997
Uziel G, Moroni I, Lamantea E, Fratta G M, Ciceri E, Carrara F, Zeviani M
Abstract excerpt
AIM: To contribute to the establishment of a rational clinical, neuroradiological, and molecular approach to neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) and maternally inherited Leigh's syndrome (MILS). METHODS AND RESULTS: The T8993G mutation in the mitochondrial genome was found in several maternal members of six pedigrees, whose clinical status ranged from no symptoms to severe...
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