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Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM. Lemmers RJLF, et al. Brain. 2024 Feb 1;147(2):414-426. doi: 10.1093/brain/awad312. Brain. 2024. PMID: 37703328 Free PMC article.
Somatic mosaicism in FSHD often goes undetected.
Lemmers RJ, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM. Lemmers RJ, et al. Ann Neurol. 2004 Jun;55(6):845-50. doi: 10.1002/ana.20106. Ann Neurol. 2004. PMID: 15174019
71 results