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Article

Recovery of MERRF fibroblasts and cybrids pathophysiology by coenzyme Q10.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Apr 2012

De la Mata Mario, Garrido-Maraver Juan, Cotán David, Cordero Mario D, Oropesa-Ávila Manuel, Izquierdo Lourdes Gómez, De Miguel Manuel, Lorite Juan Bautista, Infante Eloy Rivas, Ybot Patricia, Jackson Sandra, Sánchez-Alcázar José A

Abstract excerpt

Mitochondrial DNA mutations are an important cause of human disease for which there is no effective treatment. Myoclonic epilepsy with ragged-red fibers (MERRF) is a mitochondrial disease usually caused by point mutations in transfer RNA genes encoded by mitochondrial DNA. The most common mutation associated with MERRF syndrome, m.8344A > G in the gene MT-TK, which encodes transfer RNA(Lysine), affects the...

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Identifiers

PMID: 22354625
DOI: 10.1007/s13311-012-0103-3
PMCID: PMC3337023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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