BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome

Muscle Nerve. 2015 Mar;51(3):456-8. doi: 10.1002/mus.24455. Epub 2015 Jan 9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Female
  • GTP-Binding Protein gamma Subunits / genetics*
  • Humans
  • Mutation, Missense / genetics*
  • Portugal
  • Spastic Paraplegia, Hereditary / diagnosis*
  • Spastic Paraplegia, Hereditary / genetics*

Substances

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

Supplementary concepts

  • Spastic paraplegia 17