Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.

Antzeko izenburuak

• Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.
  nork: Rudnik-Schöneborn, S., et al.
  Argitaratua: (1996)
• Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.
  nork: Spranger, S, et al.
  Argitaratua: (1997)
• Clinical utility gene card for: proximal spinal muscular atrophy
  nork: Rudnik–Schöneborn, Sabine, et al.
  Argitaratua: (2012)
• Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.
  nork: Hahnen, E., et al.
  Argitaratua: (1996)
• A further patient with Pai syndrome with autosomal dominant inheritance?
  nork: Rudnik-Schöneborn, S, et al.
  Argitaratua: (1994)