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

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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Detalhes bibliográficos
Publicado no:F1000Res
Main Authors: Finsterer, Josef, Aliyev, Rahim
Formato: Artigo
Idioma:Inglês
Publicado em: F1000 Research Limited 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7429921/
https://ncbi.nlm.nih.gov/pubmed/32913636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.21589.1
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