Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

被引：132

作者：

McFarland, R

Clark, KM

Morris, AAM

Taylor, RW

Macphail, S

Lightowlers, RN

Turnbull, DM ^{[1
]}

机构：

[1] Univ Newcastle Upon Tyne, Dept Neurol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[2] Univ Newcastle Upon Tyne, Dept Child Hlth, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[3] Univ Newcastle Upon Tyne, Dept Obstet & Gynaecol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

来源：

NATURE GENETICS | 2002年 / 30卷 / 02期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng819

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutations of mitochondrial DNA (mtDNA) are an important cause of genetic disease(1). We describe a family with an unusual homoplasmic mutation that resulted in six neonatal deaths and one surviving child with Leigh syndrome. The mother is clinically normal, but a severe biochemical and molecular genetic defect was present in both a fatally affected child and the mother. This family highlights the role of homoplasmic mt-tRNA mutations in genetic disease.

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页码：145 / 146

页数：2

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