Detection of compound heterozygous variants in LPIN1 does not necessarily imply pathogenicity in a patient with rhabdomyolysis [version 1; peer review: 2 approved]

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 dru...

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Bibliographic Details
Main Authors: Josef Finsterer, Rahim Aliyev
Format: Article
Language:English
Published: F1000 Research Ltd 2020-01-01
Series:F1000Research
Online Access:https://f1000research.com/articles/9-15/v1