Radiological findings in siblings with dysferlin mutation with diverse phenotype

J Neurol Sci. 2020 Feb 15:409:116579. doi: 10.1016/j.jns.2019.116579. Epub 2019 Nov 12.
No abstract available

Keywords: Dysferlin; Genotype; Muscle CT; Muscle MRI; Phenotype.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Dysferlin / genetics*
  • Humans
  • Male
  • Muscular Dystrophies, Limb-Girdle / diagnostic imaging*
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Mutation / genetics*
  • Siblings*

Substances

  • DYSF protein, human
  • Dysferlin

Supplementary concepts

  • Dysferlinopathy