30 Mitochondrial haplogroup T is associated with coronary artery disease

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• 作者：Olaf Stanger ; Edith Mü ; ller ; Franz Zimmermann ; Martina Wiesbauer ; Johannes A. Mayr ; Bernhard Paulweber ; Bernhard Iglseder ; Wilfried Renner ; Waltraud Eder ; Barbara Kofler
• 关键词：mtDNA ; Late-onset myopathy ; Ataxia
• 刊名：Mitochondrion
• 出版年：2007
• 出版时间：December 2007
• 年：2007
• 卷：7
• 期：6
• 页码：412
• 全文大小：43 K

文摘

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.