{Reference Type}: Journal Article
{Title}: A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
{Author}: Ortega-Recalde O;Fonseca DJ;Patiño LC;Atuesta JJ;Rivera-Nieto C;Restrepo CM;Mateus HE;van der Knaap MS;Laissue P;
{Journal}: Mitochondrion
{Volume}: 13
{Issue}: 6
{Year}: Nov 2013
{Factor}: 4.534
{DOI}: 10.1016/j.mito.2013.03.010
{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.