Condition: CARDIOMYOPATHY, DILATED, 1P


rs397516784 in CEP85L;PLN gene and CARDIOMYOPATHY, DILATED, 1P PMID 22155237 2012 The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.

PMID 16432188 2006 A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

PMID 22820313 2012 Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

PMID 23568436 2013 Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy.

PMID 22707725 2012 Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.

rs111033559 in PLN;CEP85L gene and CARDIOMYOPATHY, DILATED, 1P PMID 22137083 2011 Mutations in the human phospholamban gene in patients with heart failure.

PMID 16432188 2006 A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

PMID 22427649 2012 Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.

PMID 22707725 2012 Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.

PMID 12610310 2003 Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 21167350 2011 PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.

PMID 26535225 2015 Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?

PMID 12639993 2003 Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 17655857 2007 Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.