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Last update

21/6/2017

Phenotype: Cardiomyopathy, dilated, 1P

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

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

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

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	8 patients / 1 family	NA	López-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):

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Cardiomyopathy, dilated, 1P

References