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Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, Töpf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Züchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B, Baets J. De Winter J, et al. Among authors: waldrop ma. medRxiv [Preprint]. 2024 Sep 24:2024.09.23.24313872. doi: 10.1101/2024.09.23.24313872. medRxiv. 2024. Update in: Genet Med. 2025 Jun;27(6):101399. doi: 10.1016/j.gim.2025.101399. PMID: 39371122 Free PMC article. Updated. Preprint.
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, Töpf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Züchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B, Baets J. De Winter J, et al. Among authors: waldrop ma. Genet Med. 2025 Jun;27(6):101399. doi: 10.1016/j.gim.2025.101399. Epub 2025 Feb 26. Genet Med. 2025. PMID: 40023774
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. Koboldt DC, et al. Among authors: waldrop ma. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003160. doi: 10.1101/mcs.a003160. Print 2018 Oct. Cold Spring Harb Mol Case Stud. 2018. PMID: 30054298 Free PMC article.
46 results