A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations Academic Article


  • Mitochondrion


  • 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. © 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

publication date

  • 2013-11-1


  • Computational Biology
  • Energy Metabolism
  • Messenger RNA
  • Missense Mutation
  • Mitochondria
  • Mitochondrial Diseases
  • Mutation
  • Nonsense Codon
  • Phenotype

International Standard Serial Number (ISSN)

  • 1567-7249

number of pages

  • 6

start page

  • 749

end page

  • 754