A Novel Mutation in KMT2B Gene Causing Childhood-onset Generalized Dystonia with Expanded Phenotype from India
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DOI: 10.4103/0028-3886.329561
Abstract: Mutations in KMT2B (lysine-specific methyltransferase 2B) gene, which is primarily involved in methylation of Histone3lys4 (H3K4), has been recently described to cause early-onset generalized progressive dystonia (DYT28) by two independent researchers. Unlike other primary dystonias,… read more here.
Keywords: onset generalized; kmt2b gene; dystonia; india novel ... See more keywords