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Fig. 1 | BMC Cardiovascular Disorders

Fig. 1

From: Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy

Fig. 1

The image illustrates Family pedigree and genetic analysis of a PPP1R13L c.580C > T variant. a The pedigree of the family is shown herein. b The genotypes of a novel stop-gain pathogenic variant c.580C > T (p.Gln194Ter) were detected in the affected proband as homozygous and in his siblings and parents as heterozygous. The other available individuals had a normal sequence or carried the variant as heterozygous

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BMC Cardiovascular Disorders

ISSN: 1471-2261

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