Cerebral palsy, spastic quadriplegic, 3, formerly
OMIM:612936Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | AP4M1 |
|---|---|
| Reference transcript | NM_004722.3 |
| DNA Change | c.1137+1G>T |
| A.A. Change | |
| Exon/Intron | intron 14 |
| Mutation Type | substitution |
| Reference | Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, et al.Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am J Hum Genet. 2009 Jul;85(1):40-52. |