Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations

Clin Genet. 2018 Nov;94(5):482-483. doi: 10.1111/cge.13428. Epub 2018 Sep 10.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Amino Acid Substitution
  • Calpain / genetics*
  • Consanguinity
  • Female
  • Genetic Association Studies* / methods
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Spastic Paraplegia, Hereditary / diagnosis*
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • Calpain
  • CAPN1 protein, human