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- Dokumenttyp:
- Case Reports; Letter; Research Support, Non-U.S. Gov't
- Autor(en):
- Amprosi, Matthias; Zech, Michael; Lichtner, Peter; Eckstein, Gertrud; Unterberger, Iris; Eigentler, Andreas; Indelicato, Elisabetta; Puttinger, Gertraud; Nachbauer, Wolfgang; Boesch, Sylvia
- Titel:
- The rare and the common: An Austrian DRPLA family harboring the European haplotype.
- Abstract:
- Dentatorubral-pallidoluysian atrophy (DRPLA) is a CAG trinucleotide repeat expansion disorder with an autosomal-dominant mode of inheritance and very low prevalence in Europe. We herein report the clinical characteristics of the first Austrian DRPLA family. Genetic analysis revealed the presence of a common European haplotype, suggesting a founder mutation in Europe.
- Zeitschriftentitel:
- Parkinsonism Relat Disord
- Jahr:
- 2021
- Band / Volume:
- 87
- Seitenangaben Beitrag:
- 119-121
- Volltext / DOI:
- doi:10.1016/j.parkreldis.2021.04.024
- PubMed:
- http://view.ncbi.nlm.nih.gov/pubmed/34022586
- Print-ISSN:
- 1353-8020
- TUM Einrichtung:
- Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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