Phenotype: Cardiomyopathy, dilated, 1P


OMIM: 609909
Inheritance: Autosomal dominant
Classification: Diseases of the circulatory system

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PLN || c.40_42delAGA

Gene/Locus:    PLN
Dna Change:    c.40_42delAGA
Protein Change:    p.Arg14del
Mutation Type:    Deletion
Mutation Effect:    In-frame deletion
Location:    exon 2
Transcript:    NM_002667.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANA8 patients / 1 familyNALópez-Ayala JM et al., 2015López-Ayala JM, Boven L, van den Wijngaard A, Peñafiel-Verdú P, van Tintelen JP, Gimeno JR, . Phospholamban p.arg14del Mutation in a Spanish Family With Arrhythmogenic Cardiomyopathy: Evidence for a European Founder Mutation.. Rev Esp Cardiol (Engl Ed). 2015; 0(0):

References

López-Ayala JM, Boven L, van den Wijngaard A, Peñafiel-Verdú P, van Tintelen JP, Gimeno JR, Phospholamban p.arg14del Mutation in a Spanish Family With Arrhythmogenic Cardiomyopathy: Evidence for a European Founder Mutation.Rev Esp Cardiol (Engl Ed). 2015; 0(0):