
Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B
Keywords: KTM2B; Dystonia; Microdeletions; Genetic and inherited disorders; CNV; Copy number variants; GPI-DBS; Globus pallidus interna-deep brain stimulation; ID; Intellectual disability; MLPA; Multiplex ligation-dependent probe amplification; MRI; Magnetic resona