Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 01-09-2011
Symbol CMTND1
Location 5q11.2
Name mitochondrial complex 1 deficiency 1
Corresponding gene NDUFS4
Main clinical features
  • myopathy mitochondrial with deficiency of respiratory chain
  • at the cerebral MRI, presence of striatal anomalies (PMID: 20972245))
  • Genetic determination
    Function/system disorder neurology
    Type disease
    Gene product
    Name NADH dehydrogenase (ubiquinone) Fe-S protein 4