Article
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
Neurogenetics - 1 Aug 2012
del Mar O'Callaghan María, Emperador Sonia, López-Gallardo Ester, Jou Cristina, Buján Nuria, Montero Raquel, Garcia-Cazorla Angels, Gonzaga Diana, Ferrer Isidre, Briones Paz, Ruiz-Pesini Eduardo, Pineda Mercè, Artuch Rafael, Montoya Julio
Abstract excerpt
The reported cases showed clinical, biochemical, histopathological, and molecular features lending support to the hypothesis of a pathogenic effect of the detected mutations. Case 1 was a neonatal presentation who showed multiple mitochondrial respiratory chain enzyme defects in muscle associated with a new homoplasmic m.5514A > G transition in the tRNA(Trp) gene. Case 2 was a late infantile presentation who also...
Topics
- Base Sequence
- Child
- Child, Preschool
- DNA, Mitochondrial
- Electron Transport
- Humans
- Infant, Newborn
- MERRF Syndrome
- Mitochondria
- Mitochondrial Diseases
- Molecular Sequence Data
- Muscles