| 1 | KLC2, SPOAN
|
| Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
|
| Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S.
|
| Hum Mol Genet 24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18.
2015
|
| 2 | KLC2, SPOAN, ZFP90
|
| Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.
|
| Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavaçana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M.
|
| Ann Hum Genet 73(Pt 3):382-7. Epub 2009 Mar 4. 2009
|
| 3 | SPOAN, ZFP90
|
| Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.
|
| Macedo-Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AM, Zatz M.
|
| Ann Neurol 57(5):730-7. 2005
|