EP.06Adult-onset recurrent rhabdomyolysis due to variants in LPIN1

Pathogenic variants in LPIN1 are a recognised cause of severe and often fatal rhabdomyolysis in childhood. We present a rare case of adult-onset recurrent rhabdomyolysis due to compound heterozygous variants in LPIN1. Despite first presenting with exercise and fasting-associated rhabdomyolysis in his early twenties and undergoing extensive investigations, a diagnosis was not achieved until the patient was 46 years of age. Next generation...