Pictorial essay of Werdnig-Hoffman disease

Minerva Pediatr. 2009 Apr;61(2):237-8.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosomes, Human, Pair 5 / genetics
  • Consanguinity
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Muscular Atrophy / genetics
  • Mutation
  • 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