A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>A associated with pure myopathy

被引：11

作者：

Jeppesen, Tina Dysgaard ^{[1
,2
,4
]}

Duno, Morten ^{[3
,4
]}

Risom, Lotte ^{[3
,4
]}

Wibrand, Flemming ^{[3
,4
]}

Rafiq, Jabin ^{[1
]}

Krag, Thomas ^{[1
,4
]}

Jakobsen, Johannes ^{[2
,4
]}

Andersen, Henning ^{[3
,4
]}

Vissing, John ^{[1
,2
,4
]}

机构：

[1] Univ Copenhagen, Rigshosp, Sect 3342, Neuromuscular Res Unit, DK-2100 Copenhagen, Denmark

[2] Univ Copenhagen, Rigshosp, Dept Neurol, DK-2100 Copenhagen, Denmark

[3] Univ Copenhagen, Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark

[4] Univ Aarhus, Aarhus Hosp, Dept Neurol, DK-8000 Aarhus C, Denmark

来源：

NEUROMUSCULAR DISORDERS | 2014年 / 24卷 / 02期

关键词：

Novel mutation; Mitochondrial DNA; MTTK gene; tRNA(lys); TRANSFER-RNA MUTATIONS;

D O I：

10.1016/j.nmd.2013.08.004

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Most patients with mutations in the tRNA(lys) gene (MTTK) present with symptoms from the central nervous system (CNS). We describe a 41-year-old woman with pure myopathy associated with a novel de novo mtDNA mutation, mt.8340G>A, which was heteroplasmic in muscle (53%), blood, urine and mouth epithelial cells (<7%). No other family members, including her mother, carried the mutation. She presented with exercise intolerance from age 9, and since age 20 she experienced ptosis and reduced ocular motility. A muscle biopsy revealed ragged red fibres (10%), no COX negative fibres, and many fibres with central nuclei (30%), indicating ongoing damage and repair. The present case expands the mutational and phenotypic spectrum of diseases associated with mutations in MTTK. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：162 / 166

页数：5

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A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G&gt;A associated with pure myopathy

A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>A associated with pure myopathy