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Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: mccombe p. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.
Cylindrical spirals in two families: Clinical and genetic investigations.
Beecroft SJ, Olive M, Quereda LG, Gallano P, Ojanguren I, McLean C, McCombe P, Laing NG, Ravenscroft G. Beecroft SJ, et al. Among authors: mccombe p. Neuromuscul Disord. 2020 Feb;30(2):151-158. doi: 10.1016/j.nmd.2019.12.006. Epub 2019 Dec 25. Neuromuscul Disord. 2020. PMID: 31952901
304 results