Article

Biallelic loss-of-function <i>OBSCN</i> variants predispose individuals to severe, recurrent rhabdomyolysis

2021-06-04

Abstract excerpt

<h4>ABSTRACT</h4> 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 in patients with recurrent episodes. However, the majority of cases remain without a genetic diagnosis. Here we present six patients who presented...

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Literature Corpus work: e63288f4-0b3a-5b22-8ba7-34983e49c9ba
DOI: 10.1101/2021.06.04.447044

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