Cargando…
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia
BACKGROUND: Senataxin (chromosome 9q34) was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA), termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2) and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2008
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2330029/ https://www.ncbi.nlm.nih.gov/pubmed/18405395 http://dx.doi.org/10.1186/1471-2350-9-28 |