Novel mitochondrial transfer RNAPhe gene mutation associated with late-onset neuromuscular disease

被引:24
作者
Deschauer, Marcus
Swalwell, Helen
Strauss, Maria
Zierz, Stephan
Taylor, Robert W. [1 ]
机构
[1] Univ Newcastle Upon Tyne, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
[2] Univ Halle Wittenberg, Dept Neurol, Halle, Germany
基金
英国惠康基金;
关键词
D O I
10.1001/archneur.63.6.902
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Background: An extensive range of molecular defects have been identified in the human mitochondrial genome (mitochondrial DNA); many are associated with well-characterized, progressive neurological syndromes, but a minority of patients have uncharacteristic phenotypes in which symptoms may be relatively mild. Objective: To describe a novel transfer RNA(Phe) mutation of mitochondrial DNA in a late-onset case with a mild phenotype of mitochondrial disease. Design: Case report. Patient: A 66-year-old woman presented with a 4-year history of walking difficulties due to exercise intolerance and paresthesia in the feet. Clinical examination results were normal. Her deceased mother had similar walking difficulties, but her sister and 2 children were unaffected. Results: The demonstration of a marked histochemical defect in cytochrome c oxidase activity on muscle biopsy prompted molecular investigation of mitochondrial DNA, revealing a novel maternally inherited mutation in the variable loop of the mitochondrial transfer RNA(Phe) gene. This 622G > A transition was heteroplasmic and segregated with cytochrome c oxidase deficiency in single fibers. Conclusion: This case serves to illustrate that primary defects of the mitochondrial genome should be considered even in older patients with late-onset, mild neuromuscular symptoms.
引用
收藏
页码:902 / 905
页数:4
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