Listar por tema "MISSENSE MUTATION"
Mostrando ítems 1-1 de 1
-
A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality
(2004)We describe a new mitochondrial DNA mutation in a male infant who presented clinical and magnetic resonance imaging features of Leigh syndrome and died at the age of 9 mo. The patient's development was reportedly normal ...