Article
Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes.
Neuromuscular disorders : NMD - 1 Jun 2003
Campos Y, García A, del Hoyo P, Jara P, Martín M A, Rubio J C, Berbel A, Barberá J R, Ribacoba R, Astudillo A, Cabello A, Ricoy J R, Arenas J
Abstract excerpt
We studied two patients with ragged-red fibers and combined defects of the mitochondrial respiratory chain in their muscle biopsy. One had mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, and harbored a T3258C transition in the tRNA(Leu(UUR)) gene. The other showed myopathy plus cardiomyopathy and had an A3280G mutation in the same gene. Both mutations were heteroplasmic, abundant in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.