Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies

Abstract excerpt

INTRODUCTION: Transgenic mice overexpressing mutated NEBL, encoding the cardiac-specific Z-disk protein nebulette, develop severe cardiac phenotypes. Since cardiomyopathies are commonly familial and because mutations in a single gene may result in variable phenotypes, we tested the hypothesis that NEBL mutations are associated with cardiomyopathy. MATERIAL AND METHODS: We analyzed 389 patients, including cohorts...

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