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Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene
Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden.
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2006 (English)In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 16, no 8, p. 504-506Article in journal (Refereed) Published
Abstract [en]

We describe a second patient with the 583G>A mutation in the tRNA(phe) gene of mitochondrial DNA (mtDNA). This 17-year-old girl had a mitochondrial myopathy with exercise intolerance and an asymptomatic retinopathy. Muscle investigations showed occasional ragged red fibers, 30% cytochrome c oxidase (COX)-negative fibers, and reduced activities of complex I+IV in the respiratory chain. The mutation was heteroplasmic (79%) in muscle but undetectable in other tissues. Analysis of single muscle fibers revealed a significantly higher level of mutated mtDNA in COX-negative fibers. Our study indicates that the 583G>A mutation is pathogenic and expands the clinical spectrum of this mutation.

Place, publisher, year, edition, pages
Elsevier, 2006. Vol. 16, no 8, p. 504-506
Keywords [en]
Mitochondrial, tRNA(phe), Mutation, Myopathy, mtDNA, Retinal dystrophy
National Category
Ophthalmology
Identifiers
URN: urn:nbn:se:oru:diva-103850DOI: 10.1016/j.nmd.2006.05.010ISI: 000241759100006PubMedID: 16806928Scopus ID: 2-s2.0-33748302054OAI: oai:DiVA.org:oru-103850DiVA, id: diva2:1732356
Available from: 2023-01-30 Created: 2023-01-30 Last updated: 2024-01-02Bibliographically approved

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Andersson Grönlund, Marita

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