Neuromuscular disease presentation with three genetic defects involving two genomes

被引：8

作者：

Al-Dosary, Mazhor ^{[2
]}

Whittaker, Roger G. ^{[2
]}

Haughton, Joanna ^{[3
]}

McFarland, Robert ^{[2
]}

Goodship, Judith ^{[4
]}

Turnbull, Douglass M. ^{[2
]}

Taylor, Robert W. ^{[1
,2
]}

机构：

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

[2] Univ Newcastle, NCG Rare Mitochondrial Disorders Adults & Childre, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[3] Newcastle Gen Hosp, Reg Neurosci Ctr, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

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

来源：

NEUROMUSCULAR DISORDERS | 2009年 / 19卷 / 12期

基金：

英国惠康基金;

关键词：

PEO; Mitochondrial DNA; tRNA mutation; Single fibre analysis; Segregation; MITOCHONDRIAL-DNA MUTATIONS; DEPLETION MYOPATHY; OPHTHALMOPLEGIA; DEFICIENCY; CELLS;

D O I：

10.1016/j.nmd.2009.10.001

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

An extensive range of molecular defects have been identified in the human mitochondrial genome (mtDNA), many associated with well-characterised, progressive neurological syndromes. We describe a patient who presented to a mitochondrial clinic with progressive bilateral ptosis, external opthalmoplegia and increasing difficulty with walking. He had previously been diagnosed with a dominant, demyelinating polyneuropathy due to PMP22 gene duplication and had also developed gout, presenting in acute renal failure, due to an X-linked recessive HPRT gene mutation. Muscle biopsy revealed many COX-deficient fibres which we show contain high levels of a third genetic defect - a novel, mitochondrial tRNA(Leu(CUN)) (MTTL2) gene mutation. (C) 2009 Elsevier B.V. All rights reserved.

引用

页码：841 / 844

页数：4

共 23 条

[1] Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA [J].