Article
Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene.
Neuromuscular disorders : NMD - 1 Aug 2006
Darin N, Kollberg G, Moslemi A-R, Tulinius M, Holme E, Grönlund M Andersson, Andersson S, Oldfors A
Abstract excerpt
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...
Topics
- Adolescent
- DNA Mutational Analysis
- Electron Transport
- Electron Transport Complex IV
- Exercise Tolerance
- Female
- Humans
- Mitochondrial Myopathies
- Muscle Fibers, Skeletal
- Muscle Weakness
- Mutation
- RNA
- RNA, Mitochondrial