Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

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 w...

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Main Authors: Uziel, G, Moroni, I, Lamantea, E, Fratta, G, Ciceri, E, Carrara, F, Zeviani, M
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 1997
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Papers
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2169628/
https://ncbi.nlm.nih.gov/pubmed/9221962
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