Article
A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.
Mitochondrion - 1 Jan 2011
Pinós Tomàs, Marotta Mario, Gallardo Eduard, Illa Isabel, Díaz-Manera Jorge, Gonzalez-Vioque Emiliano, García-Arumí Elena, Andreu Antoni L, Martí Ramon
Abstract excerpt
We report a heteroplasmic novel mutation m.5636T>C in the mt-tRNA(Ala) in a patient with bilateral ptosis and ophthalmoparesis in whom a muscle biopsy showed cytochrome c oxdidase (COX) negative and ragged red fibers. Using laser capture microdissection we have isolated COX negative fibers and COX positive fibers from the muscle of the patient and determined that the mutation load was clearly increased in COX...
Topics
- Adult
- Biopsy
- DNA, Mitochondrial
- Genes, Mitochondrial
- Humans
- Male
- Microdissection
- Mitochondria
- Muscle, Skeletal
- Mutation
- Ophthalmoplegia, Chronic Progressive External
- RNA, Transfer, Ala