Spastic paraplegia 11, autosomal recessive
OMIM:604360Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | SPG11 |
|---|---|
| Reference transcript | NM_025137.3 |
| DNA Change | c.6100C>T |
| A.A. Change | p.Arg2034X |
| Exon/Intron | exon 32 |
| Mutation Type | substitution |
| Reference | Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, et al,Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat. 2009 Mar;30(3):E500-19. |