A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing

Can J Neurol Sci. 2021 Mar;48(2):293-296. doi: 10.1017/cjn.2020.141. Epub 2020 Jul 10.
No abstract available

Keywords: CAPN3; Calpain; LGMD2A; LGMDR1; Muscular dystrophy; RNA-sequencing.

Publication types

  • Letter

MeSH terms

  • Calpain / genetics
  • Humans
  • Muscle, Skeletal
  • Muscular Dystrophies, Limb-Girdle*
  • Mutation
  • Sequence Analysis, RNA

Substances

  • Calpain