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

• Published in: Journal of medical genetics Vol. 43; no. 9; p. e46
• Main Authors: Wong, L-J C, Yim, D, Bai, R-K, Kwon, H, Vacek, M M, Zane, J, Hoppel, C L, Kerr, D S
• Format: Journal Article
• Language: English
• Published: 01.09.2006

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...