A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

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• 作者：Heidi K. Soini ; Antti Väisänen ; Mikko Kärppä ; Reetta Hinttala…
• 关键词：mtDNA ; Mitochondrial disease ; MTTT ; Insertion ; Multiple deletions ; POLG1
• 刊名：BMC Medical Genetics
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：18
• 期：1
• 全文大小：972KB
• 刊物主题：Human Genetics; Cytogenetics; Gene Function;
• 出版者：BioMed Central
• ISSN：1471-2350
• 卷排序：18

文摘

BackgroundMitochondrial diseases present with variable multi-organ symptoms. Common disease-causing mutations in mitochondrial DNA (mtDNA) are regularly screened in diagnostic work-up, but novel mutations may remain unnoticed.