Key result
Heterozygous mutations in the myopalladin (MYPN) gene were identified in 3-4% of patients with idiopathic dilated cardiomyopathy and were absent in 400 control subjects.
Why the study?
Are mutations in the myopalladin (MYPN) gene associated with idiopathic dilated cardiomyopathy?
Population
114 independent idiopathic dilated cardiomyopathy patients of European descent, and 400 control subjects…
Comparison
Genetic screening of the myopalladin gene and… vs 400 control subjects without DCM
Design
Case-control
Authors
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Myopalladin mutations may contribute to DCM pathogenesis; hypothesis-generating and should not yet change clinical genetic testing.
Case-Control (n=514)
Are mutations in the myopalladin (MYPN) gene associated with idiopathic dilated cardiomyopathy?
Absolute Event Rate: 3.5% vs 0%
Mutations in the sarcomeric Z-band protein myopalladin (MYPN) gene are a novel cause of idiopathic dilated cardiomyopathy, accounting for 3-4% of cases in a European descent population.
Duboscq-Bidot et al. (2007) conducted a case-control in Idiopathic dilated cardiomyopathy (n=514). MYPN gene mutations vs. Control subjects was evaluated on Presence of MYPN gene mutations. Heterozygous mutations in the myopalladin (MYPN) gene were identified in 3-4% of patients with idiopathic dilated cardiomyopathy and were absent in 400 control subjects.
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