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.
Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484.
Brain. 2022.
PMID: 34957489
Free article.
A variety of genetic disorders predispose to rhabdomyolysis through different pathogenic mechanisms, particularly in patients with recurrent episodes. ...Here we present six patients who presented with severe and recurrent rhabdomyolysis, usually with onset i …
A variety of genetic disorders predispose to rhabdomyolysis through different pathogenic mechanisms, particularly in patients with re …