SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Richard J L F LemmersNienke van der StoepPatrick J van der VlietSteven A MooreDavid San Leon GranadoKatherine JohnsonAna TopfVolker StraubTeresinha EvangelistaTahseen MozaffarVirginia E KimonisNatalie D ShawRita SelvaticiAlessandra FerliniNicol VoermansBaziel van EngelenSabrina SacconiRabi TawilMeindert LamersSilvère M van der MaarelPublished in: Journal of medical genetics (2019)
The localisation of missense variants within the ATPase domain of SMCHD1 may contribute to the differences in phenotypic outcome.