Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady, Rosaline Quinlivan, Ashirwad Merve, Renata Scalco, David Hilton-Jones, Henry Houlden, Halil Ibrahim Aydin, Serdar Ceylaner, Jerry Vockley, Rhonda L Taylor, Chiara FollandAasta Kelly, Hayley Goullee, Emil Ylikallio, Mari Auranen, Henna Tyynismaa, Bjarne Udd, Alistair R R Forrest, Mark R Davis, Drago Bratkovic, Nicholas Manton, Thomas Robertson, Pamela McCombe, Nigel G Laing, Liza Phillips, Pascale de Lonlay, Gianina Ravenscroft

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article numberawab484
JournalBrain
DOIs
Publication statusE-pub ahead of print - 27 Dec 2021
Publication typeA1 Journal article-refereed

Publication forum classification

  • Publication forum level 3

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