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Titel:

Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.

Dokumenttyp:
Article; Case Reports
Autor(en):
Monfrini, Edoardo; Avanzino, Laura; Palermo, Giovanni; Bonato, Giulia; Brescia, Gloria; Ceravolo, Roberto; Cantarella, Giovanna; Mandich, Paola; Prokisch, Holger; Storm Van's Gravesande, Karin; Straccia, Giulia; Elia, Antonio; Reale, Chiara; Panteghini, Celeste; Zorzi, Giovanna; Eleopra, Roberto; Erro, Roberto; Carecchio, Miryam; Garavaglia, Barbara; Zech, Michael; Romito, Luigi; Di Fonzo, Alessio
Abstract:
BACKGROUND: VPS16 pathogenic variants have been recently associated with inherited dystonia. Most patients affected by dominant VPS16-related disease display early-onset isolated dystonia with prominent oromandibular, bulbar, cervical, and upper limb involvement, followed by slowly progressive generalization. CASES: We describe six newly reported dystonic patients carrying VPS16 mutations displaying unusual phenotypic features in addition to dystonia, such as myoclonus, choreoathetosis, pharyngo...     »
Zeitschriftentitel:
Mov Disord Clin Pract
Jahr:
2024
Band / Volume:
11
Heft / Issue:
1
Seitenangaben Beitrag:
87-93
Volltext / DOI:
doi:10.1002/mdc3.13927
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/38291845
TUM Einrichtung:
Institut für Humangenetik (Prof. Winkelmann)
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