Loss of obscurin function may trigger rhabdomyolysis

New data presented in the late-breaking news session of WMS 2021 highlighted a predisposition to severe and recurrent rhabdomyolysis by bialleic loss-of-function (LoF) obscurin (OBSCN) gene variants.

In a multicenter, collaborative study, researchers from Australia, Finland, France, Turkey, UK, and USA, identified biallelic LoF variants of the OBSCN gene from six proband rhabdomyolysis patients across different countries.