Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis
Macarena Cabrera‐Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu E. Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady, Rosaline C. M. Quinlivan, Ashirwad Merve, R. Scalco, David Hilton‐Jones, Henry Houlden, , Gianina Ravenscroft
The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.
Brain · Dec 23, 2021Peer-reviewedGenetics