Dyt6
Mostrando 1-3 de 3 artigos, teses e dissertações.
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1. Distonia cervical: considerações sobre casos esporádicos e familiares em 88 pacientes
A distonia cervical (CD) afeta a musculatura do pescoço de modo focal ou em combinação com outras partes do corpo. O objetivo deste estudo foi identificar diferenças clínicas entre pacientes com distonia com história familiar e pacientes sem história familiar (esporádicos). Foram selecionados 88 pacientes com DC no Setor de Distúrbios do Movimento e
Arq. Neuro-Psiquiatr.. Publicado em: 2014-02
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2. Non-DYT1 dystonia in a large Italian family.
A large non-Jewish Italian family affected by idiopathic torsion dystonia with autosomal dominant transmission and almost complete penetrance is reported. The prevalent phenotype was characterised by early onset with cranial-cervical involvement and progression to a segmental distribution; progression to generalisation was also found. Among 45 people examine
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3. Delineation of the dystonia-parkinsonism syndrome locus in Xq13.
The X chromosome-linked dystonia-parkinsonism syndrome (XDP) is a severe movement disorder, characterized by both dystonia and parkinsonism. XDP is a genetically homogeneous disorder. Known ancestry of all patients has been traced back to Panay, Philippines, where the disease probably originated from a single mutation (founder effect). The gene locus, DYT3,