Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):628-9. doi: 10.3109/21678421.2013.812662. Epub 2013 Jul 25.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Female
  • Gene Deletion*
  • Humans
  • Middle Aged
  • Muscular Atrophy, Spinal / diagnosis
  • Muscular Atrophy, Spinal / genetics
  • Sandhoff Disease / diagnosis*
  • Sandhoff Disease / genetics*
  • beta-Hexosaminidase beta Chain / genetics*

Substances

  • HEXB protein, human
  • beta-Hexosaminidase beta Chain