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Article

KMT2B rare missense variants in generalized dystonia

18 May 2017

Abstract excerpt

BACKGROUND: Recently a novel syndrome of childhood-onset generalized dystonia originating from mutations in lysine-specific methyltransferase 2B (KMT2B) has been reported. METHODS: We sequenced the exomes of 4 generalized dystonia-affected probands recruited from a Prague movement disorders center (Czech Republic). Bioinformatics analyses were conducted to select candidate causal variants in described...

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PMID: 28520167
DOI: 10.1002/mds.27026

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