The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort

Myoclonus-dystonia (M-D) is a very rare movement disorder, caused in ∼30–50% of cases by mutations in SGCE. The CACNA1B variant c.4166G>A; (p.R1389H) was recently reported as the likely causative mutation in a single 3-generation Dutch pedigree with five subjects affected by a unique dominant M-D...

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Publicado en:Hum Mol Genet
Autores principales: Mencacci, Niccolo E., R'bibo, Léa, Bandres-Ciga, Sara, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Batla, Amit, Bhatia, Kailash P., Pittman, Alan M., Hardy, John, Weissbach, Anne, Klein, Christine, Gasser, Thomas, Lohmann, Ebba, Wood, Nicholas W.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2015
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4550822/
https://ncbi.nlm.nih.gov/pubmed/26157024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv255
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