DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATION

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:...