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, Sarah Drewes, Jerry Vockley, Rhonda L. TaylorChiara Folland, Aasta Kelly, Hayley Goullee, Emil Ylikallio, Mari Auranen, Henna Tyynismaa, Bjarne Udd, Alistair R. R. Forrest, Mark R. Davis, Drago Bratkovic, Nicholas Manton, Thomas Robertson, Cullen O'Gorman, Pamela McCombe, Nigel G. Laing, Liza Phillips, Pascale de Lonlay, Gianina Ravenscroft

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalBrain : a journal of neurology
Volume145
Issue number11
Pages (from-to)3985–3998
Number of pages14
ISSN0006-8950
DOIs
Publication statusPublished - Nov 2022
MoE publication typeA1 Journal article-refereed

Fields of Science

  • 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

Cite this