[Dysferlinopathy masquerading as a refractory polymyositis]

Med Clin (Barc). 2015 Nov 6;145(9):414-5. doi: 10.1016/j.medcli.2014.12.009. Epub 2015 Feb 7.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Age of Onset
  • Biopsy
  • Diagnostic Errors*
  • Dysferlin
  • Electromyography
  • Female
  • Genes, Recessive
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Magnetic Resonance Imaging
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics
  • Muscle Proteins / deficiency
  • Muscle Proteins / genetics
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies, Limb-Girdle / diagnosis*
  • Muscular Dystrophies, Limb-Girdle / epidemiology
  • Muscular Dystrophies, Limb-Girdle / genetics
  • Muscular Dystrophies, Limb-Girdle / pathology
  • Mutation, Missense
  • Phenotype
  • Point Mutation
  • Polymyositis / diagnosis*

Substances

  • DYSF protein, human
  • Dysferlin
  • Immunosuppressive Agents
  • Membrane Proteins
  • Muscle Proteins

Supplementary concepts

  • Dysferlinopathy