Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia

Am J Med Genet A. 2004 Aug 30;129A(2):206-7. doi: 10.1002/ajmg.a.30161.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Base Sequence
  • DNA, Mitochondrial / genetics
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Mutation, Missense / genetics*
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Sequence Analysis, DNA
  • Transcription Factors

Substances

  • DNA, Mitochondrial
  • Membrane Transport Proteins
  • TRAPPC2 protein, human
  • Transcription Factors