"Testing site", "a different approach to training", "a new level of the training process" – this is how the students describe the training process in private establishment of continuing professional education for medical staff at. This is all about applying special approaches to the postgraduate education More...
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Desmopathy is a rare hereditary disease associated with a mutation in the DES gene, which is a kind of myofibrillar myopathy. With this disease, it is possible to damage skeletal, cardiac, smooth muscles, as well as diaphragm. In clinical practice, desminopathy is a difficult diagnostic task. In this article, the clinical case of the family form of myofibrillar myopathy with the established mutation c.1021A> C (Thr341Pro) in the DES gene in the heterozygous state is considered. We present a family study in a cumulative calculus of over 100 years describing the dynamics of clinical manifestations, morphological, cardiological and electromyographic parameters.
Key words: desmin, DES, desminopathy, myofibrillar myopathy, mutation, cancer, electromyography, heart failure
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Лима, словно узнав, что гости ненадолго, щедро одарила нас событиями дня и встречами, что оставляют следы, по которым наш разум путешествует в прошлом.
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В любой культуре есть ритуалы, некоторые из них ориентированы на улучшение здоровья, как физического, так и психического... читать о моём опыте
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