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A rare reason for hospital admission with muscle weakness in the Covid-19 rra: CPT-2 deficiency
INTRODUCTION: Carnitine Palmitoyl Transferase-2 (CPT-2) is a mitochondrial enzyme involved in the pathway of long chain fatty acids. CPT-2 deficiency is a rare autosomal recessive disease. Except for neonatal and severe infantile hepatocardiomuscular forms, the myopathic form diagnosed at later ages...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10653157/ http://dx.doi.org/10.1210/jcemcr/luac014.038 |