Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

被引：40

作者：

Blakely, Emma ^{[1
]}

He, Langping ^{[1
]}

Gardner, Julie L. ^{[1
]}

Hudson, Gavin ^{[1
]}

Walter, John ^{[2
]}

Hughes, Imelda ^{[3
]}

Turnbull, Douglass M. ^{[1
,4
]}

Taylor, Robert W. ^{[1
,4
]}

机构：

[1] Univ Newcastle Upon Tyne, Sch Med, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Royal Manchester Childrens Hosp, Willink Biochem Genet Unit, Manchester M27 1HA, Lancs, England

[3] Royal Manchester Childrens Hosp, Dept Neurol, Manchester M27 1HA, Lancs, England

[4] Univ Newcastle Upon Tyne, Inst Human Genet & Neurosci, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

来源：

NEUROMUSCULAR DISORDERS | 2008年 / 18卷 / 07期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

mitochondrial DNA; myopathy; depletion syndrome; TK2; mutations;

D O I：

10.1016/j.nmd.2008.04.014

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mitochondrial DNA depletion syndromes are a heterogeneous group of childhood neurological disorders characterised by a quantitative abnormality of mitochondrial DNA. We describe two siblings who presented at 8 months and 14 months with myopathy, which rapidly progressed and resulted in death by respiratory failure at age 14 and 18 months, respectively. Muscle biopsy revealed marked respiratory chain defects, with real-time PCR confirming a dramatic depletion of mitochondrial DNA. Sequencing of the thymidine kinase 2 (TK2) gene revealed two, novel heterozygous mutations (p.Q87X and p.N100S) with parental DNA analysis confirming the transmission of mutated alleles. (c) 2008 Elsevier B.V. All rights reserved.

引用

页码：557 / 560

页数：4

共 10 条

[1]

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion [J].