Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation

The m.8993T→C MTATP6 mutation of mitochondrial DNA (mtDNA) usually causes mitochondrial disease in childhood, but was recently described in a family with adult onset ataxia and polyneuropathy. Cytochrome c oxidase muscle histochemistry, which is the standard clinical investigation for mitochondrial...

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Detalhes bibliográficos
Main Authors: Craig, K, Elliott, H R, Keers, S M, Lambert, C, Pyle, A, Graves, T D, Woodward, C, Sweeney, M G, Davis, M B, Hanna, M G, Chinnery, P F
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Letter to JMG
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2652821/
https://ncbi.nlm.nih.gov/pubmed/18055910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.052902
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