A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

BACKGROUND: We undertook genetic analysis of three affected families to identify the cause of dominantly-inherited CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss) syndrome. METHODS: We used whole-exome sequencing to analyze two families affected with CAP...

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Détails bibliographiques
Auteurs principaux: Demos, Michelle K, van Karnebeek, Clara DM, Ross, Colin JD, Adam, Shelin, Shen, Yaoqing, Zhan, Shing Hei, Shyr, Casper, Horvath, Gabriella, Suri, Mohnish, Fryer, Alan, Jones, Steven JM, Friedman, Jan M
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2014
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3937150/
https://ncbi.nlm.nih.gov/pubmed/24468074
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-15
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