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SMN1

MIM.600354 5q12.2-q13.3

Sunday 30 November 2003

SMN protein, survival motor neuron protein

Pathology

- germline mutations in neuromuscular disease spinal muscular atrophy (SMA)

  • SMA type I (MIM.253300)
  • SMA type II (MIM.253550)
  • SMA type III (MIM.253400)

See also

- SMNs

  • SMN2

References

- Meister G, Eggert C, Fischer U. SMN-mediated assembly of RNPs : a complex story. Trends Cell Biol. 2002 Oct ;12(10):472-8. PMID : 12441251