Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease

Acta Neuropathol. 2020 Aug;140(2):231-235. doi: 10.1007/s00401-020-02164-4. Epub 2020 May 25.
No abstract available

MeSH terms

  • DNA Repeat Expansion
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Myotonia Congenita / genetics*
  • Myotonia Congenita / pathology
  • Pedigree
  • Perilipin-4 / genetics*

Substances

  • PLIN4 protein, human
  • Perilipin-4