An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

Clin Neurol Neurosurg. 2018 Mar:166:1-3. doi: 10.1016/j.clineuro.2018.01.013. Epub 2018 Jan 30.
No abstract available

Keywords: BICD2; Neuromuscular disorder; Panel sequencing; SMALED2.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Gene Deletion*
  • Humans
  • Male
  • Microtubule-Associated Proteins / genetics*
  • Middle Aged
  • Spinal Muscular Atrophies of Childhood / diagnosis*
  • Spinal Muscular Atrophies of Childhood / genetics*

Substances

  • BICD2 protein, human
  • Microtubule-Associated Proteins