A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
Mitochondrion
; 13(6): 749-54, 2013 Nov.
Article
en En
| MEDLINE
| ID: mdl-23562761
ABSTRACT
NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinformatic and molecular analysis indicated that this deletion lead to the synthesis of mRNA molecules carrying a premature stop codon, which might be degraded by the nonsense-mediated decay system. Our results add information on the molecular basis and the phenotypic features of mitochondrial disease caused by NDUFV1 mutations.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mutación Missense
/
Enfermedades Mitocondriales
/
Heterocigoto
/
NADH Deshidrogenasa
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Mitochondrion
Año:
2013
Tipo del documento:
Article
País de afiliación:
Colombia