6 ICA stenosis associated with G617A mutation in the mitochondrial tRNA phenylalanine gene: A possible new phenotype

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• 作者：Saori Miyakawa ; Takahiro Iizuka ; Yu-ichi Goto ; Mayumi Sato ; Kosuke Suzuki ; Junichi Hamada ; Fumihiko Sakai
• 关键词：mtDNA ; Late-onset myopathy ; Ataxia
• 刊名：Mitochondrion
• 出版年：2007
• 期刊代码：39_15677249
• 类别：neu
• 出版时间：December 2007
• 卷：7
• 期：6
• 页码：405
• 文件大小：43 K

摘要

We identified a new mutation in the mtDNA-encoded transfer RNA glutamate gene (tRNAGlu) in a patient presenting with late-onset myopathy. The mutation was nearly homoplasmic in muscle but hardly detectable in peripheral blood. Adding to the list of disease-related mtDNA variants, our findings propose to consider screening of tRNAGlu in cases of late-onset neuromuscular disorders.