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- Title:
Atypical presentations of DYT1 dystonia with acute craniocervical onset.
- Document type:
- Case Reports; Letter; Research Support, Non-U.S. Gov't
- Author(s):
- 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.
- Journal title abbreviation:
- Parkinsonism Relat Disord
- Year:
- 2021
- Journal volume:
- 83
- Pages contribution:
- 54-55
- Fulltext / DOI:
- doi:10.1016/j.parkreldis.2020.12.019
- Pubmed ID:
- http://view.ncbi.nlm.nih.gov/pubmed/33476878
- Print-ISSN:
- 1353-8020
- TUM Institution:
- Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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