Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation

Acta Neuropathol. 2022 Jun;143(6):733-735. doi: 10.1007/s00401-022-02422-7. Epub 2022 May 2.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autophagy
  • Genotype
  • Humans
  • Muscle, Skeletal
  • Muscular Diseases* / genetics
  • Perilipin-4 / genetics
  • Phenotype
  • Ubiquitin* / genetics
  • Vacuoles

Substances

  • PLIN4 protein, human
  • Perilipin-4
  • Ubiquitin