A novel mitochondrial ND5 (MTND5) gene mutation giving. isolated exercise intolerance

被引：19

作者：

Downham, Esther ^{[1
]}

Winterthun, Synnove ^{[1
]}

Nakkestad, Hanne Linda ^{[1
]}

Hirth, Asle ^{[1
,2
]}

Halvorsen, Thomas ^{[3
]}

Taylor, Robert W. ^{[4
,5
]}

Bindoff, Laurence A. ^{[1
,6
]}

机构：

[1] Univ Bergen, Heukeland Univ Hosp, Dept Clin Med, N-5021 Bergen, Norway

[2] Haukeland Hosp, Dept Heart Dis, Bergen, Norway

[3] Haukeland Hosp, Dept Paediat, Bergen, Norway

[4] Univ Newcastle, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne, Tyne & Wear, England

[5] Univ Newcastle, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England

[6] Haukeland Hosp, Dept Neurol, Bergen, Norway

来源：

NEUROMUSCULAR DISORDERS | 2008年 / 18卷 / 04期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

miochondrial DNA; exercise intolerance; muscle disease; MTND5;

D O I：

10.1016/j.nmd.2008.01.003

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 isolated exercise intolerance caused by a new, maternally inherited mutation in mitochondrial DNA. The heteroplasmic T>C transition at position 13271 in MTND5 affects a highly conserved base and segregates with the disease, being present at highest levels in skeletal muscle fibres showing abnormal mitochondrial accumulation. This is the 15th mutation affecting the MTND5 subunit of respiratory chain complex I and confirms this protein as an important site for disease with phenotypes ranging from MELAS and infantile encephalopathies to isolated syndromes affecting a single tissue such as Leber hereditary optic neuropathy and now skeletal muscle. (C) 2008 Elsevier B.V. All rights reserved.

引用

页码：310 / 314

页数：5

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