Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene

J Neurol Neurosurg Psychiatry. 2009 Oct;80(10):1180-1. doi: 10.1136/jnnp.2008.165977.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / psychology*
  • Female
  • GTP-Binding Protein gamma Subunits / genetics*
  • Humans
  • Lipodystrophy, Congenital Generalized / genetics*
  • Lipodystrophy, Congenital Generalized / psychology*
  • Male
  • Mental Disorders / etiology
  • Mutation*
  • Phenotype
  • Taiwan

Substances

  • BSCL2 protein, human
  • GTP-Binding Protein gamma Subunits