CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

Using exome sequencing and linkage analysis in a three-generation family with a unique dominant myoclonus-dystonia-like syndrome with cardiac arrhythmias, we identified a mutation in the CACNA1B gene, coding for neuronal voltage-gated calcium channels Ca(V)2.2. This mutation (c.4166G>A;p.Arg1389H...

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Publicado no:Hum Mol Genet
Main Authors: Groen, Justus L., Andrade, Arturo, Ritz, Katja, Jalalzadeh, Hamid, Haagmans, Martin, Bradley, Ted E.J., Jongejan, Aldo, Verbeek, Dineke S., Nürnberg, Peter, Denome, Sylvia, Hennekam, Raoul C.M., Lipscombe, Diane, Baas, Frank, Tijssen, Marina A.J.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4817404/
https://ncbi.nlm.nih.gov/pubmed/25296916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu513
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