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A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features BMC Cardiovascular Disorders Springer Nature Link Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) Radiology Reference Article Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency a cardiac magnetic resonance study Scientific Reports Brain MRI finding showed the T2 high, T1 low signal intensity single Download Scientific Diagram
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