Alexandra Gudkova

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Desmin mutations underlie inherited myopathies/cardiomyopathies with varying severity and involvement of the skeletal and cardiac muscles. We developed a transgenic mouse model expressing low level of the L345P desmin mutation (DESMUT mice) in order to uncover changes in skeletal and cardiac muscles caused by this mutation. The most striking ultrastructural(More)
Several desmin mutations have been described in patients with cardiomyopathies and distal myopathies. Among them, A213V substitution has been associated with three completely different clinical phenotypes: restrictive cardiomyopathy, dilated cardiomyopathy and isolated distal myopathy. However, the identification of this substitution also in control(More)
Desmin cardiomyopathy is a rare cause of congestive heart failure. Its clinical manifestation in adulthood often is associated with conduction disorders and a neuromuscular phenotype. Only a few cases have been reported, with early manifestation in childhood mostly due to severe cardiomyopathy dilationand conduction abnormalities. However, the disease can(More)
BACKGROUND Cardiomyopathies represent a rare group of disorders often of genetic origin. While approximately 50% of genetic causes are known for other types of cardiomyopathies, the genetic spectrum of restrictive cardiomyopathy (RCM) is largely unknown. The aim of the present study was to identify the genetic background of idiopathic RCM and to compile the(More)
In dilated and hypertrophic cardiomyopathies, over ten disease-causing genes have been identified in each entity. In contrast, mutations in only desmin and cardiac troponin T and I (TNNI3) have been shown to cause restrictive cardiomyopathy (RCM). We applied a candidate gene approach and identified a novel one nucleotide deletion, resulting in frame shift(More)
Several desmin mutations have been described over the past few years in patients with dilated and restrictive cardiomyopathy, often in association with distal myopathy. However, the role of desmin mutations as a cause of various types of cardiomyopathy is still undetermined. The aim of this study was to analyse the frequency of desmin mutations in patients(More)
Papers on the significance of cardiomyocyte apoptosis in cardiovascular disorders development are reviewed. Some distinctive features of regulation and morphological manifestations of cardiomyocyte apoptosis are described. Although a great majority of cardiomyocytes are highly differentiated cells, apoptosis-related loss of cellular weight is noted in the(More)
The paper comparatively analyzes myocardial morphology in children and adults with hypertrophic cardiomyopathy. All the cases analyzed had its obstructive form and significant asymmetric left ventricular hypertrophy--hypertrophy of the ventricular septum (VS). When stratifying the risk of sudden death from the obstructive form of the disease in adults, the(More)