Dysferlinopathy, with mild cardiac involvement, from a novel mutation of DYSF gene

QJM. 2023 Jun 8;116(6):453-454. doi: 10.1093/qjmed/hcad003.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Dysferlin / genetics
  • Humans
  • Membrane Proteins / genetics
  • Muscle, Skeletal
  • Muscular Dystrophies, Limb-Girdle* / diagnosis
  • Muscular Dystrophies, Limb-Girdle* / genetics
  • Mutation

Substances

  • DYSF protein, human
  • Dysferlin
  • Membrane Proteins

Supplementary concepts

  • Dysferlinopathy