Article
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.
Human molecular genetics - 15 Sept 2015
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
Abstract excerpt
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 syndrome and cardiac arrhythmias. In an attempt to replicate this finding, we assessed by direct sequencing the...
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