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TK2 mutation presenting as indolent myopathy

Recessive mutations in the TK2 gene typically cause fatal infantile mitochondrial DNA (mtDNA) depletion syndromes (MDS).(1–3) However, the progression of weakness may vary,(4) as shown by recently described adult patients with late-onset myopathy.(5,6) To date, only 5 adult patients with TK2-related...

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Detalhes bibliográficos
Main Authors: Paradas, Carmen, Gutiérrez Ríos, Purificacion, Rivas, Eloy, Carbonell, Pilar, Hirano, Michio, DiMauro, Salvatore
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3590052/
https://ncbi.nlm.nih.gov/pubmed/23303857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31827f0ff7
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