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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Bibliografske podrobnosti
Main Authors: Paradas, Carmen, Gutiérrez Ríos, Purificacion, Rivas, Eloy, Carbonell, Pilar, Hirano, Michio, DiMauro, Salvatore
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2013
Teme:
Clinical/Scientific Notes
Online dostop: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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