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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