CACNA1S mutation associated with a case of juvenile-onset congenital myopathy

J Neurol Sci. 2021 Dec 15:431:120047. doi: 10.1016/j.jns.2021.120047. Epub 2021 Nov 3.
No abstract available

Keywords: CACNA1S; Congenital myopathy; Dihydropyridine receptor; Z-disc.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Calcium Channels, L-Type
  • Humans
  • Muscle, Skeletal
  • Muscular Diseases*
  • Mutation / genetics
  • Myopathies, Structural, Congenital*
  • Myotonia Congenita* / diagnostic imaging
  • Myotonia Congenita* / genetics

Substances

  • CACNA1S protein, human
  • Calcium Channels, L-Type