Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

Acta Neuropathol. 2016 Sep;132(3):475-8. doi: 10.1007/s00401-016-1602-9. Epub 2016 Aug 2.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Family Health
  • Filamins / metabolism
  • Humans
  • Male
  • Mutation / genetics*
  • Myotonia Congenita / genetics*
  • Myotonia Congenita / pathology
  • Peptide Hydrolases / genetics*
  • Young Adult

Substances

  • Filamins
  • KY protein, human
  • Peptide Hydrolases