Spinal muscular atrophy-2
OMIM:253550Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | SMN1 |
|---|---|
| DNA Change | Exon deletion |
| A.A. Change | |
| Exon/Intron | exon 7 |
| Mutation Type | deletion |
| Reference | Bouhouche A, Benomar A, Birouk N, Bouslam N, Ouazzani R, Yahyaoui M, Chkili T.High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients. J Neurol. 2003 Oct;250(10):1209-13. |
Variant not named according to HGVS recommendations