Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Clin Genet. 2014 Apr;85(4):393-5. doi: 10.1111/cge.12185. Epub 2013 Jun 10.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Founder Effect
  • Humans
  • Male
  • Mixed Function Oxygenases / genetics*
  • Mutation
  • Pedigree
  • Phenotype
  • Siblings
  • Spastic Paraplegia, Hereditary / etiology
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • Mixed Function Oxygenases
  • fatty acid alpha-hydroxylase