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...

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Autors principals: Huang, Lijia, Chardon, Jodi Warman, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
Matèries:
Research
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
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