A novel tRNAVal mitochondrial DNA mutation causing MELAS

被引：15

作者：

Tanji, Kurenal ^{[1
]}

Kaufmann, Petra ^{[2
]}

Naini, Ali B. ^{[2
]}

Lu, Jiesheng ^{[2
]}

Parsons, Timothy C. ^{[2
]}

Wang, Dong ^{[2
]}

Willey, Joshua Z. ^{[2
]}

Shanske, Sara ^{[2
]}

Hirano, Michio ^{[2
]}

Bonilla, Eduardo ^{[1
,2
]}

Kharldji, Alexander ^{[3
]}

DiMauro, Salvatore ^{[2
]}

Rowland, Lewis P. ^{[2
]}

机构：

[1] Columbia Univ, Dept Pathol, Div Neuropathol, Coll Phys & Surg,P&S, New York, NY 10032 USA

[2] Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

[3] Columbia Univ, Coll Phys & Surg, Dept Radiol, New York, NY 10032 USA

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2008年 / 270卷 / 1-2期

关键词：

tRNAVal; mitochondrial DNA; stroke; MELAS;

D O I：

10.1016/j.jns.2008.01.016

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

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. (c) 2008 Elsevier B.V. All rights reserved.

引用

页码：23 / 27

页数：5

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