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

Ítems similars

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