A novel tRNA^Val mitochondrial DNA mutation causing MELAS

详细信息	查看全文 | 推荐本文 |

• 作者：Kurenai Tanji ; Petra Kaufmann ; Ali B. Naini ; Jiesheng Lu ; Timothy C. Parsons ; Dong Wang ; Joshua Z. Willey ; Sara Shanske ; Michio Hirano ; Eduardo Bonilla ; Alex ; er Kh ; ji ; Salvatore DiMauro ; Lewis P. Rowl
• 关键词：tRNAVal ; Mitochondrial DNA ; Stroke ; MELAS
• 刊名：Journal of the Neurological Sciences
• 出版年：2008
• 期刊代码：178_0022510x
• 类别：med
• 出版时间：15 July 2008
• 卷：270
• 期：1-2
• 页码：23-27
• 文件大小：896 K

摘要

Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is the most common mitochondrial disease due to mitochondrial DNA (mtDNA) mutations. At least 15 distinct mtDNA mutations have been associated with MELAS, and about 80%of the cases are caused by the A3243G tRNA^Leu(UUR) gene mutation. We report here a novel tRNA^Val mutation in a 37-year-old woman with manifestations of MELAS, and compare her clinicopathological phenotype with other rare cases associated tRNA^Val mutations.