Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations

Am J Hum Genet. 1996 Nov;59(5):1163-5.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child, Preschool
  • Cyclic AMP Response Element-Binding Protein
  • Female
  • Gene Deletion
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Male
  • Muscular Atrophy, Spinal / epidemiology
  • Muscular Atrophy, Spinal / genetics*
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • RNA-Binding Proteins
  • SMN Complex Proteins

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • SMN Complex Proteins