Article
An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype.
Pediatric neurology - 1 Mar 2006
Kanaumi Takeshi, Hirose Shinichi, Goto Yu-ichi, Naitou Etsuo, Mitsudome Akihisa
Abstract excerpt
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a syndrome associated with mitochondrial DNA mutations such as A3243G, the most common mutation. Ragged-red fibers and strongly succinate dehydrogenase-reactive blood vessels in the muscle are diagnostic pathologic features of MELAS. In general, the first typical attack of MELAS occurs in children at school age; it is...
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