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Twelve‐year Follow‐up of A Large Italian Family with Atypical Phenotypes of DYT1‐dystonia

BACKGROUND: A heterozygous mutation in the TOR1A gene (DYT1) accounts for isolated dystonia typically presenting during childhood or adolescence, with initial involvement of one limb, spreading rapidly to other limbs and the trunk, sparing craniocervical muscles. However, atypical phenotypes, regard...

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Detalhes bibliográficos
Publicado no:Mov Disord Clin Pract
Main Authors: Magrinelli, Francesca, Bacchin, Ruggero, Tinazzi, Michele, Gambarin, Mattia
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6384170/
https://ncbi.nlm.nih.gov/pubmed/30838317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12712
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