Clinical utility gene card for: proximal spinal muscular atrophy

Eitemau Tebyg

• Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) – update 2015
  gan: Rudnik-Schöneborn, Sabine, et al.
  Cyhoeddwyd: (2015)
• Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.
  gan: Rudnik-Schöneborn, S., et al.
  Cyhoeddwyd: (1994)
• Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.
  gan: Rudnik-Schöneborn, S., et al.
  Cyhoeddwyd: (1996)
• Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.
  gan: Spranger, S, et al.
  Cyhoeddwyd: (1997)
• Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?
  gan: Shababi, Monir, et al.
  Cyhoeddwyd: (2014)