A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency

PURPOSE: To identify molecular defects in a girl with clinical features of MELAS (mitochondrial encephalomyopathy and lactic acidosis) and MERRF (ragged‐red fibres) syndromes. METHODS: The enzyme complex activities of the mitochondrial respiratory chain were assayed. Temporal temperature gradient ge...

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Detalhes bibliográficos
Main Authors: Wong, L‐J C, Yim, D, Bai, R‐K, Kwon, H, Vacek, M M, Zane, J, Hoppel, C L, Kerr, D S
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Electronic Letter
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564579/
https://ncbi.nlm.nih.gov/pubmed/16950817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.040626
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