Article
DYT2 screening in early-onset isolated dystonia.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2017
Carecchio Miryam, Reale Chiara, Invernizzi Federica, Monti Valentina, Petrucci Simona, Ginevrino Monia, Morgante Francesca, Zorzi Giovanna, Zibordi Federica, Bentivoglio Anna Rita, Valente Enza Maria, Nardocci Nardo, Garavaglia Barbara
Abstract excerpt
BACKGROUND: Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases previously grouped under the term "DYT2 dystonia". Positive patients reported so far show focal onset during childhood with subsequent generalization and a slowly progressive course to adulthood. METHODS: 73 patients with isolated dystonia of various distribution,...
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