Article

Detection of compound heterozygous variants in LPIN1 does not necessarily imply pathogenicity in a patient with rhabdomyolysis

2020-01-13

Abstract excerpt

In a recent article by Yim et al. , a 15-month-old male is described who experienced severe rhabdomyolysis with a creatine-kinase value (CKV) of 127494 U/l one day after intramuscular injection of an unidentified drug by the general practitioner. Rhabdomyolysis was not attributed to this injected drug but to compound heterozygous variants in LPIN1. The study has a number of shortcomings. Triggers of rhabdomyolysi...

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Literature Corpus work: d0240552-b804-501a-8324-a41194caac6d
DOI: 10.12688/f1000research.21589.1

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