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Description
Observations during L-carnitine infusion in two long-term critically ill patients
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To prepare samples for OCR measurements, samples were prepared in mitochondrial assay buffer (70 mM sucrose, 220 mM mannitol, 10 mM KH2PO4, 5 mM MgCl2, 2 mM HEPES, 1 mM EGTA and 0.2% fatty acid-free BSA, pH 7.2) plus substrate (pyruvate and malate for the Complex I-mediated ETC activity assay, or succinate and rotenone for the Complex II-mediated ETC activity assay)
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Mutations in the DCHS1 gene, encoding a member of the cadherin superfamily involved in cell-cell adhesion molecules, have been identified as causing myxomatous MVP ( DSP , HCN4 , MYH6 , and TTN ), in favor of a common genetic origin for both myocardial and MV disease ( TTN encodes for the giant sarcomeric protein titin and is regarded the cause of 25% of familial dilated cardiomyopathy
Zhang H, et al
