Spastic paraplegia 51, autosomal recessive
OMIM:613744Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | AP4E1 |
|---|---|
| Reference transcript | NM_007347.4 |
| DNA Change | c.3313C>T |
| A.A. Change | p.Arg1105X |
| Exon/Intron | exon 21 |
| Mutation Type | substitution |
| Reference | Kong XF, Bousfiha A, Rouissi A, Itan Y, Abhyankar A, Bryant V, Okada S, Ailal F, Bustamante J, Casanova JL, Hirst J, Boisson-Dupuis S.A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. PLoS One. 2013;8(3):e58286. |