Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation

Am J Med Genet A. 2006 Oct 15;140(20):2248-50. doi: 10.1002/ajmg.a.31452.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / metabolism
  • Bone and Bones / abnormalities*
  • Bone and Bones / diagnostic imaging
  • Humans
  • Male
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / metabolism
  • Mutation / genetics
  • NADH Dehydrogenase / genetics*
  • Netherlands
  • Pedigree
  • Radiography
  • Syndrome

Substances

  • NADH Dehydrogenase
  • NADH dehydrogenase subunit 1, human