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mutations in OCTN2 lead to primary carnitine deficiency (PCD), a disorder characterized by systemic carnitine depletion and associated clinical manifestations, including muscle weakness, cardiomyopathy, and infertility

Lin CP, Traets JJH, Vredevoogd DW, Visser NL, Peeper DS

2 Materials and methods 2.1 Plasmid construction Constructs pGEX-6P-1- cntA and pACYCDuet-1- cntB (for the individual production of CntA and CntB) and also plasmid pGEX-6P-1- cntAB (for the co-production of CntA and CntB) were described recently (Massmig et al., 2020)

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