Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) geneShow others and affiliations
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
2023-01-302023-01-302024-01-02Bibliographically approved