A woman with typical features of myoclonic epilepsy with ragged red fibers (MERRF) had a novel heteroplasmic mutation (G611A) in the mitochondrial DNA tRNA phenylalanine gene. The mutation was heteroplasmic (91%) in muscle but undetectable in accessible tissues from the patient and her maternal relatives. Single-fiber PCR analysis showed that the proportion of mutant genomes was higher in cytochrome c oxidase (COX)-negative ragged red fibers (RRFs) than in COX-positive non-RRFs. This report shows that typical MERRF syndrome is not always associated with tRNA lysine mutations.
|Autori:||MANCUSO M; FILOSTO M; MOOTHA VK; ROCCHI A; PISTOLESI S; MURRI L; DIMAURO S; SICILIANO G|
|Titolo:||A novel mitochondrial tRNAPhe mutation causes MERRF syndrome|
|Anno del prodotto:||2004|
|Appare nelle tipologie:||1.1 Articolo in rivista|