Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

J Neurol. 2015;262(4):1066-8. doi: 10.1007/s00415-015-7683-x. Epub 2015 Mar 4.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Intramural

MeSH terms

  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Middle Aged
  • Pedigree
  • Proteins / genetics*
  • Sandhoff Disease / genetics*
  • Sandhoff Disease / physiopathology*
  • beta-Hexosaminidase beta Chain / genetics*

Substances

  • Intracellular Signaling Peptides and Proteins
  • Proteins
  • SH3TC2 protein, human
  • HEXB protein, human
  • beta-Hexosaminidase beta Chain