Erratum: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Abstract

Following publication of this article, the authors were asked to remove a clinical image and some video footage of one of the affected individuals. Although consent was obtained, in keeping with their ethical consent framework, the authors allow for withdrawal of consent and are carrying out the wishes of the research subjects under their consent process. This amendment has been made in the HTML and PDF versions of the article.Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome In the version of this article initially published, the legend to Figure 4c stated that only one proband without SMCHD1 mutation was tested for D4Z4 methylation pattern. However, three probands and one affected family member without SMCHD1 mutation were tested, as shown in the figure. The error has been corrected in the HTML and PDF versions of the article.

Early recognition of SGCE‐myoclonus–dystonia in children

“…In contrast to writer's cramp described for defects in TOR1A, GCH, KMT2B, and THAP1, which usually appears in the context of a progressive and generalized dystonic phenotype, isolated writer's cramp in the paediatric age should prompt consideration of SCGE mutation analysis. [17][18][19] In SGCE writer's cramp, the elbow and shoulder were frequently involved compared with idiopathic writer's cramp. 20 In fact, three of the four writer's cramp patterns identified involved the shoulder (Figure 1a-d).…”

“…Therefore, it seems that writing is a very sensitive test to unmask upper limb dystonia in children with SGCE ‐myoclonus–dystonia. In contrast to writer's cramp described for defects in TOR1A , GCH , KMT2B , and THAP1 , which usually appears in the context of a progressive and generalized dystonic phenotype, isolated writer's cramp in the paediatric age should prompt consideration of SCGE mutation analysis 17–19 …”

Along the Bos taurus genome, uncover candidate imprinting control regions

“…Symptoms vary and may include delayed growth and development, asymmetry of the face, hypotonia, and intellectual disability [36]. Mutations in MLL2 cause complex early-onset dystonia [37,38]. In mouse oocytes, MLL2 was required for bulk H3K4 trimethylation [39].…”