Article
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.
Archives of neurology - 1 Mar 2008
Shanske Sara, Coku Jorida, Lu Jiesheng, Ganesh Jaya, Krishna Sindu, Tanji Kurenai, Bonilla Eduardo, Naini Ali B, Hirano Michio, DiMauro Salvatore
Abstract excerpt
BACKGROUND: The number of molecular causes of MELAS (a syndrome consisting of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) and Leigh syndrome (LS) has steadily increased. Among these, mutations in the ND5 gene (OMIM 516005) of mitochondrial DNA are important, and the...
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