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...
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