Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

OBJECTIVE: We report novel defects of mitochondrial translation elongation factor Ts (EFTs), with high carrier frequency in Finland and expand the manifestations of this disease group from infantile cardiomyopathy to juvenile neuropathy/encephalopathy disorders. METHODS: DNA analysis, whole-exome an...

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Detalhes bibliográficos
Main Authors: Ahola, Sofia, Isohanni, Pirjo, Euro, Liliya, Brilhante, Virginia, Palotie, Aarno, Pihko, Helena, Lönnqvist, Tuula, Lehtonen, Tanita, Laine, Jukka, Tyynismaa, Henna, Suomalainen, Anu
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4150129/
https://ncbi.nlm.nih.gov/pubmed/25037205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000716
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