l carnitine negatives L-Carnitine in Drosophila: A Review Carnitine: Genetic Variants Affecting Mitochondrial

Diabetes Care 30 , 16081610 (2007)

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There is usually a poor correlation between genotype and phenotypic expression in PCD.[6][18] Some investigators have noted nonsense and frameshift mutations more commonly in symptomatic patients, and in asymptomatic mothers with PCD (identified by positive newborn screening of their infants), missense mutations and in-frame deletion are commonly reported.[18] If genetic testing fails to confirm PCD diagnosis, functional assay such as the cultured skin fibroblast carnitine assay is the preferred test

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