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Fig. 1 | BMC Cardiovascular Disorders

Fig. 1

From: A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features

Fig. 1

A: The image illustrates the pedigree of the family with primary carnitine deficiency (PCD). The proband (IV-3), indicated by the arrow, is the case of the study. B: The image presents the chromatogram of the change position. The individual marked with a black dot is a homozygous carrier. + sign: the reference allele; − sign: the mutant allele

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BMC Cardiovascular Disorders

ISSN: 1471-2261

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