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Published in 2021 at "Clinical Epigenetics"
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…
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Keywords:
hypermethylation;
dystonia;
kmt2b variants;
kmt2b ... See more keywords
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Published in 2023 at "Neurology"
DOI: 10.1212/wnl.0000000000207300
Abstract: KMT2B gene related dystonia (DYT-KMT2B) is a primarily childhood onset movement disorder that usually starts with lower limb dystonia progressing into generalized dystonia. Our patient described here experienced difficulty gaining weight, laryngomalacia and feeding difficulties…
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Keywords:
related dystonia;
neurology;
child;
kmt2b ... See more keywords