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

Lookup NU author(s): Dr Helen Swalwell, Professor Robert Taylor


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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 RNAPhe 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 RNAPhe 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. ©2006 American Medical Association. All rights reserved.

Publication metadata

Author(s): Deschauer M, Swalwell H, Strauss M, Zierz S, Taylor RW

Publication type: Article

Publication status: Published

Journal: Archives of Neurology

Year: 2006

Volume: 63

Issue: 6

Pages: 902-905

ISSN (print): 0003-9942

ISSN (electronic): 1538-3687

Publisher: American Medical Association


DOI: 10.1001/archneur.63.6.902

PubMed id: 16769874


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