Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNAphe gene
| Autor: | Elisabeth Holme, Anders Oldfors, M. Andersson Grönlund, M. Tulinius, A-R. Moslemi, Gittan Kollberg, Niklas Darin, Susann Andersson |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Mitochondrial DNA
Adolescent RNA Mitochondrial Retinal Artery DNA Mutational Analysis Muscle Fibers Skeletal Respiratory chain Exercise intolerance medicine.disease_cause Retina Electron Transport Electron Transport Complex IV RNA Transfer Phe Retinal Diseases Mitochondrial myopathy medicine Humans Cytochrome c oxidase Myopathy Genetics (clinical) Mutation Exercise Tolerance Muscle Weakness biology Mitochondrial Myopathies medicine.disease Molecular biology Heteroplasmy Neurology Pediatrics Perinatology and Child Health biology.protein RNA Female Neurology (clinical) medicine.symptom |
| Zdroj: | Neuromuscular Disorders. 16:504-506 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2006.05.010 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect