004 - A Novel Familial Case of Diffuse Leukodystrophy Related to NDUFV1 Compound Heterozygous Mutations

Introduction: Mitochondrial leukodystrophy due to complex I deficiency is an entity with high genetic heterogeneity, the mutations of the gene NDUFV1 being one of the causes of this disease. It is an autosomal recessive entity that causes a variable phenotype, from a fatal neonatal onset to neurodeg...