Carregant...
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
BACKGROUND: Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal...
Guardat en:
| Autors principals: | , , , , , , , , , , |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2012
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3545966/ https://ncbi.nlm.nih.gov/pubmed/22986007 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-67 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|