Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18

Chin Med J (Engl). 2016 Nov 20;129(22):2759-2761. doi: 10.4103/0366-6999.193444.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Exons / genetics
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation
  • Pedigree
  • Spastic Paraplegia, Hereditary / etiology
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • ERLIN2 protein, human
  • Membrane Proteins