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Titel:

Atypical presentations of DYT1 dystonia with acute craniocervical onset.

Dokumenttyp:
Case Reports; Letter; Research Support, Non-U.S. Gov't
Autor(en):
Pavelekova, P; Jech, R; Zech, M; Krepelova, A; Han, V; Mosejova, A; Liba, Z; Urgosik, D; Gdovinova, Z; Havrankova, P; Fecikova, A; Winkelmann, J; Skorvanek, M
Abstract:
DYT1 gene mutations lead to early-onset dystonia that begins with focal limb onset and spreads to other body regions within 5 years, with typical sparing of the oromandibular muscles. In the present study, we describe two patients with an unusual presentation of the disease.
Zeitschriftentitel:
Parkinsonism Relat Disord
Jahr:
2021
Band / Volume:
83
Seitenangaben Beitrag:
54-55
Volltext / DOI:
doi:10.1016/j.parkreldis.2020.12.019
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33476878
Print-ISSN:
1353-8020
TUM Einrichtung:
Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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