@article{90354baf2a074e1a9ef5adfb87049c0e,
title = "Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis",
keywords = "rhabdomyolysis, hyperCKaemia, myalgia, exercise intolerance, obscurin, SARCOPLASMIC-RETICULUM, EXERCISE INTOLERANCE, MUSCULAR-DYSTROPHY, OBSCURIN, MUSCLE, GENE, LINE, MUTATIONS, ISOFORM, MYALGIA, 3112 Neurosciences, 3124 Neurology and psychiatry",
author = "Macarena Cabrera-Serrano and Laure Caccavelli and Marco Savarese and Anna Vihola and Manu Jokela and Mridul Johari and Thierry Capiod and Marine Madrange and Enrico Bugiardini and Stefen Brady and Rosaline Quinlivan and Ashirwad Merve and Renata Scalco and David Hilton-Jones and Henry Houlden and Aydin, {Halil Ibrahim} and Serdar Ceylaner and Sarah Drewes and Jerry Vockley and Taylor, {Rhonda L.} and Chiara Folland and Aasta Kelly and Hayley Goullee and Emil Ylikallio and Mari Auranen and Henna Tyynismaa and Bjarne Udd and Forrest, {Alistair R. R.} and Davis, {Mark R.} and Drago Bratkovic and Nicholas Manton and Thomas Robertson and Cullen O'Gorman and Pamela McCombe and Laing, {Nigel G.} and Liza Phillips and {de Lonlay}, Pascale and Gianina Ravenscroft",
year = "2022",
month = nov,
doi = "10.1093/brain/awab484",
language = "English",
volume = "145",
pages = "3985–3998",
journal = "Brain : a journal of neurology",
issn = "0006-8950",
publisher = "Oxford University Press",
number = "11",
}