MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

被引：56

作者：

Taylor, RW

Chinnery, PF

Haldane, F

Morris, AAM

Bindoff, LA

Wilson, J

Turnbull, DM

机构：

[1] SCH MED,DEPT NEUROL,NEWCASTLE TYNE NE2 4HH,TYNE & WEAR,ENGLAND

[2] GREAT ORMOND ST HOSP SICK CHILDREN,LONDON,ENGLAND

来源：

ANNALS OF NEUROLOGY | 1996年 / 40卷 / 03期

基金：

英国惠康基金;

关键词：

D O I：

10.1002/ana.410400318

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a patient with the mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) phenotype in whom initial investigations in skeletal muscle failed to show any histochemical or biochemical defect. Subsequent analysis of the mitochondrial genome identified a new heteroplasmic mutation in the valine transfer RNA gene, the first described in this region.

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页码：459 / 462

页数：4

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