Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
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DOI: 10.1186/s13148-021-01145-y
Abstract: Background Dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements and/or postures. Heterozygous variants in lysine methyltransferase 2B ( KMT2B ), encoding a… read more here.
Keywords: hypermethylation; dystonia; kmt2b variants; kmt2b ... See more keywords