Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA

We present a Japanese family suffering from mitochondrial encephalomyopathy associated with a T-to-C transition at mitochondrial DNA (mtDNA) nucleotide position 3291. Clinical manifestations of the patients include cerebellar ataxia with myopathy, recurrent headache, and myoclonus and epilepsy. The...

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Detalles Bibliográficos
Autores principales: Sunami, Yoko, Sugaya, Keizo, Chihara, Norio, Goto, Yu-ichi, Matsubara, Shiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Milan 2011
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171650/
https://www.ncbi.nlm.nih.gov/pubmed/21863273
http://dx.doi.org/10.1007/s10072-011-0719-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171650/
https://www.ncbi.nlm.nih.gov/pubmed/21863273
http://dx.doi.org/10.1007/s10072-011-0719-9

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