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Is mitochondrial tRNA Leu(UUR) 3291T>C mutation pathogenic?

Mitochondrial DNA - 1 Aug 2012

Ding Yu, Leng Jianhang

Abstract excerpt

According to a recent report by Sunami et al., a maternally inherited Japanese family with variable phenotypes including mitochondrial myopathy, recurrent headache, and myoclonus and epilepsy had been described to be associated with mitochondrial tRNA(Leu(UUR)) 3291T>C mutation. In order to verify this association, we reanalyzed the clinical and molecular datasets obtained from Sunami's work; in addition, a...

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Identifiers

PMID: 22471645
DOI: 10.3109/19401736.2012.674119

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