CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

Acta Neuropathol. 2018 Jan;135(1):149-151. doi: 10.1007/s00401-017-1775-x. Epub 2017 Oct 16.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Calcium-Binding Proteins / genetics*
  • Calcium-Binding Proteins / metabolism*
  • Calsequestrin / metabolism*
  • Family
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Proteins / genetics*
  • Mitochondrial Proteins / metabolism*
  • Muscles / metabolism
  • Muscles / pathology
  • Mutation*
  • Myoblasts / metabolism
  • Myoblasts / pathology
  • Myopathies, Structural, Congenital / genetics*
  • Myopathies, Structural, Congenital / metabolism*
  • Myopathies, Structural, Congenital / pathology
  • Phenotype
  • Polymerization

Substances

  • CASQ1 protein, human
  • Calcium-Binding Proteins
  • Calsequestrin
  • Mitochondrial Proteins