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A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. Coppens S, et al. Among authors: milone m. Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15. Am J Hum Genet. 2021. PMID: 33861953 Free PMC article.
RYR1 causing distal myopathy.
Laughlin RS, Niu Z, Wieben E, Milone M. Laughlin RS, et al. Among authors: milone m. Mol Genet Genomic Med. 2017 Nov;5(6):800-804. doi: 10.1002/mgg3.338. Epub 2017 Oct 4. Mol Genet Genomic Med. 2017. PMID: 29178655 Free PMC article.
GYG1: A distal myopathy with polyglucosan bodies.
Nicolau S, Tracy JA, Pisapia DJ, Tanji K, Milone M. Nicolau S, et al. Among authors: milone m. JIMD Rep. 2020 May 13;55(1):88-90. doi: 10.1002/jmd2.12129. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905144 Free PMC article.
614 results