A novel tRNAVal mitochondrial DNA mutation causing MELAS

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:270

Article

Tanji, Kurenal¹  Kaufmann, Petra²  Naini, Ali B.²  Lu, Jiesheng²  Parsons, Timothy C.²  Wang, Dong²  Willey, Joshua Z.²  Shanske, Sara²  Hirano, Michio²  Bonilla, Eduardo^1,2  Kharldji, Alexander³  DiMauro, Salvatore²  Rowland, Lewis P.² 

[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

关键词: tRNAVal;    mitochondrial DNA;    stroke;    MELAS;   

DOI  :  10.1016/j.jns.2008.01.016

来源: Elsevier

【 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.

【 授权许可】

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