HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

Acta Neuropathol. 2017 Jul;134(1):163-165. doi: 10.1007/s00401-017-1724-8. Epub 2017 May 13.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Disease Progression
  • Family
  • Female
  • Haploinsufficiency*
  • Heat-Shock Proteins / deficiency
  • Heat-Shock Proteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Molecular Chaperones
  • Muscular Diseases / diagnostic imaging
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Muscular Diseases / physiopathology
  • Phenotype
  • Protein Serine-Threonine Kinases / deficiency
  • Protein Serine-Threonine Kinases / genetics*

Substances

  • HSPB8 protein, human
  • Heat-Shock Proteins
  • Molecular Chaperones
  • Protein Serine-Threonine Kinases