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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Main Authors: 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
Language:Inglês
Published: BioMed Central 2012
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Research
Online Access: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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