Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III

Chin Med J (Engl). 2017 Oct 5;130(19):2382-2383. doi: 10.4103/0366-6999.215339.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Heart Septal Defects, Atrial / diagnosis*
  • Heart Septal Defects, Atrial / pathology
  • Humans
  • Male
  • Muscle, Skeletal / pathology
  • Muscular Atrophy, Spinal / diagnosis*
  • Muscular Atrophy, Spinal / pathology
  • Neuromuscular Junction / pathology*
  • Spinal Muscular Atrophies of Childhood / diagnosis*
  • Spinal Muscular Atrophies of Childhood / pathology
  • Survival of Motor Neuron 1 Protein / metabolism

Substances

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