MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes
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چکیده
منابع مشابه
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
BACKGROUND Myoclonic epilepsy with ragged-red fibres (MERRF) and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are established phenotypes of mitochondrial encephalomyopathy. The m.8356T>C transition in the mitochondrial tRNA(Lys) gene is a pathogenic mutations of MERRF. The m.3243A>G transition in the mitochondrial tRNA(Leu) gene is detected in most MELAS patien...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2010
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.2009.072058