Clinical utility gene card for: proximal spinal muscular atrophy

Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2012.62. Epub 2012 Apr 18.
No abstract available

MeSH terms

  • Diagnosis, Differential
  • Humans
  • Spinal Muscular Atrophies of Childhood / diagnosis
  • Spinal Muscular Atrophies of Childhood / genetics*
  • Survival of Motor Neuron 1 Protein / genetics
  • Survival of Motor Neuron 2 Protein / genetics

Substances

  • SMN1 protein, human
  • SMN2 protein, human
  • Survival of Motor Neuron 1 Protein
  • Survival of Motor Neuron 2 Protein