Original paper
DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATION
Abstract
Aim. To perform clinical and instrumental examination and genetic testing using the method of exome sequencing of proband and his relatives of 1 and 2 degrees of kinship with myofibrillary myopathy and non-compaction cardiomyopathy. Material and methods . The object of the study: proband with non-compaction cardiomyopathy and his relatives of 1 and 2 degrees of kinship. All participants underwent clinical and instrumental examination including:...
Paper Details
Title
DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATION
Published Date
Jan 1, 2017
Issue
10
Pages
9 - 16
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