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distal spinal muscular atrophies

Friday 21 November 2003

Types

- distal spinal muscular atrophy type 1 (DSMA1) (at 11q13.2-q13.4) (MIM.604320)
- distal spinal muscular atrophy type 2 (DSMA2) (at 9p21.1-p12) (MIM.605726)
- distal spinal muscular atrophy type 3 (DSMA3) (at 11q13) (MIM.607088)
- distal spinal muscular atrophy type 4 (DSMA4) (PLEKHG5 mutations at 1p36) (MIM.611067)
- distal spinal muscular atrophy type 5 (DSMA5) (mutations in glycyl tRNA synthetase or GARS) (12690580)

See also

- spinal muscular atrophies (SMAs)

References

- Lefebvre S, Burglen L, Frezal J, Munnich A, Melki J. The role of the SMN gene in proximal spinal muscular atrophy. Hum Mol Genet. 1998;7(10):1531-6. PMID: 9735373