TY  - JOUR
AU  - Cabrera-Serrano, Macarena
AU  - Caccavelli, Laure
AU  - Savarese, Marco
AU  - Vihola, Anna
AU  - Jokela, Manu
AU  - Johari, Mridul
AU  - Capiod, Thierry
AU  - Madrange, Marine
AU  - Bugiardini, Enrico
AU  - Brady, Stefen
AU  - Quinlivan, Rosaline
AU  - Merve, Ashirwad
AU  - Scalco, Renata
AU  - Hilton-Jones, David
AU  - Houlden, Henry
AU  - Aydin, Halil Ibrahim
AU  - Ceylaner, Serdar
AU  - Drewes, Sarah
AU  - Vockley, Jerry
AU  - Taylor, Rhonda L
AU  - Folland, Chiara
AU  - Kelly, Aasta
AU  - Goullee, Hayley
AU  - Ylikallio, Emil
AU  - Auranen, Mari
AU  - Tyynismaa, Henna
AU  - Udd, Bjarne
AU  - Forrest, Alistair R R
AU  - Davis, Mark R
AU  - Bratkovic, Drago
AU  - Manton, Nicholas
AU  - Robertson, Thomas
AU  - O'Gorman, Cullen
AU  - McCombe, Pamela
AU  - Laing, Nigel G
AU  - Phillips, Liza
AU  - de Lonlay, Pascale
AU  - Ravenscroft, Gianina
PY  - 2022
DO  - 10.1093/brain/awab484
UR  - http://hdl.handle.net/10668/19728
T2  - Brain : a journal of neurology
AB  - Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating factor, most commonly toxins and over exertion. A variety of genetic disorders predispose to rhabdomyolysis through different pathogenic mechanisms, particularly...
LA  - en
KW  - exercise intolerance
KW  - hyperCKaemia
KW  - myalgia
KW  - obscurin
KW  - rhabdomyolysis
KW  - Adolescent
KW  - Humans
KW  - Calcium
KW  - Rhabdomyolysis
KW  - Myalgia
KW  - Sarcoplasmic Reticulum
KW  - Loss of Heterozygosity
KW  - Protein Serine-Threonine Kinases
KW  - Rho Guanine Nucleotide Exchange Factors
TI  - Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
TY  - research article
VL  - 145
ER  -