A rare case of adult onset LPIN1 associated rhabdomyolysis
T Minton, N Forrester, S Al Baba, K Urankar… - Neuromuscular …, 2020 - Elsevier
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 rhabdomyolysis in his twenties and having undergone extensive investigations, the
patient did not receive a diagnosis until he was 46 years of age. DNA sequencing revealed
a pathogenic deletion involving exon 18 of LPIN1 in conjunction with a c. 2410G> A …
rhabdomyolysis in childhood. We present a rare case of adult onset recurrent
rhabdomyolysis due to compound heterozygous variants in LPIN1. Despite first presenting
with rhabdomyolysis in his twenties and having undergone extensive investigations, the
patient did not receive a diagnosis until he was 46 years of age. DNA sequencing revealed
a pathogenic deletion involving exon 18 of LPIN1 in conjunction with a c. 2410G> A …
