A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
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Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14.
Am J Hum Genet. 2015.
PMID: 25983243
Free PMC article.