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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network; Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG. Donkervoort S, et al. Among authors: brull a. Ann Clin Transl Neurol. 2024 Mar;11(3):629-640. doi: 10.1002/acn3.51983. Epub 2024 Feb 4. Ann Clin Transl Neurol. 2024. PMID: 38311799 Free PMC article.
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.
Bolduc V, Sizov K, Brull A, Esposito E, Chen GS, Uapinyoying P, Sarathy A, Johnson K, Bönnemann CG. Bolduc V, et al. Among authors: brull a. bioRxiv [Preprint]. 2024 Mar 22:2024.03.22.586265. doi: 10.1101/2024.03.22.586265. bioRxiv. 2024. Update in: Mol Ther Nucleic Acids. 2024 Jul 16;35(3):102269. doi: 10.1016/j.omtn.2024.102269 PMID: 38585815 Free PMC article. Updated. Preprint.
37 results