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Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Weihl CC, Töpf A, Bengoechea R, Duff J, Charlton R, Garcia SK, Domínguez-González C, Alsaman A, Hernández-Laín A, Franco LV, Sanchez MEP, Beecroft SJ, Goullee H, Daw J, Bhadra A, True H, Inoue M, Findlay AR, Laing N, Olivé M, Ravenscroft G, Straub V. Weihl CC, et al. Among authors: laing n. Acta Neuropathol. 2023 Jan;145(1):127-143. doi: 10.1007/s00401-022-02510-8. Epub 2022 Oct 20. Acta Neuropathol. 2023. PMID: 36264506 Free PMC article.
Fetal akinesia: review of the genetics of the neuromuscular causes.
Ravenscroft G, Sollis E, Charles AK, North KN, Baynam G, Laing NG. Ravenscroft G, et al. Among authors: laing ng. J Med Genet. 2011 Dec;48(12):793-801. doi: 10.1136/jmedgenet-2011-100211. Epub 2011 Oct 7. J Med Genet. 2011. PMID: 21984750 Review.
423 results