1.
Metab Brain Dis
; 30(4): 1083-5, 2015 Aug.
Artículo
en Inglés
| MEDLINE
| ID: mdl-25550170
RESUMEN
Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient's clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam.