Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype

J Neurol Neurosurg Psychiatry. 2014 May;85(5):590-2. doi: 10.1136/jnnp-2013-306777. Epub 2013 Dec 11.
No abstract available

Keywords: Motor Neuron Disease; Neurogenetics.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Carrier Proteins / genetics*
  • Female
  • Humans
  • Male
  • Microtubule-Associated Proteins
  • Muscular Atrophy, Spinal / complications
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / pathology
  • Mutation / genetics*
  • Pedigree
  • Phenotype*

Substances

  • BICD2 protein, human
  • Carrier Proteins
  • Microtubule-Associated Proteins