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Lookup NU author(s): Dr Helen Swalwell,
Emeritus Professor Doug Turnbull,
Professor Robert Taylor
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Background: Pathogenic mutations of the human mitochondrial genome are associated with well-characterized, progressive neurological syndromes, with mutations in the transfer RNA genes being particularly prominent. Objective: To describe a novel mitochondrial transfer RNA(Pro) gene mutation in a woman with a myoclonic epilepsy with ragged-red fibers-like disease. Design, Setting, and Patient: Case report of a 49-year-old woman presenting with a myoclonic epilepsy with ragged-red fibers-like disease comprising myoclonic jerks, cerebellar ataxia, and proximal muscle weakness. Results: Histochemical analysis of a muscle biopsy revealed numerous cytochrome-c oxidase-deficient, ragged-red fibers, while biochemical studies indicated decreased activity of respiratory chain complex I. Molecular investigation of mitochondrial DNA revealed a new heteroplasmic mutation in the T psi C stem of the mitochondrial transfer RNA(Pro) gene that segregated with cytochrome-c oxidase deficiency in single muscle fibers. Conclusions: Our case serves to illustrate the everevolving phenotypic spectrum of mitochondrial DNA disease and the importance of performing comprehensive mitochondrial genetic studies in the absence of common mitochondrial DNA mutations.
Author(s): Blakely EL, Trip SA, Swalwell H, He LP, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW
Publication type: Article
Publication status: Published
Journal: Archives of Neurology
ISSN (print): 0003-9942
ISSN (electronic): 1538-3687
Publisher: American Medical Association
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