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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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F1000 Research Limited
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7429921/ https://www.ncbi.nlm.nih.gov/pubmed/32913636 http://dx.doi.org/10.12688/f1000research.21589.1 |