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- URN zum Zitieren dieses Dokuments:
- urn:nbn:de:bvb:355-epub-745877
- DOI zum Zitieren dieses Dokuments:
- 10.5283/epub.74587
Zusammenfassung
Background Dystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), a phospholipid scramblase and ion channel. We previously reported patients that were heterozygous for the ANO3 variants S651N, V561L, A599D and S651N, which cause dystonia by unknown mechanisms. Methods We applied electrophysiology, Ca2+ measurements and ...
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