The Olympus of style is still held by the magic of original ornaments, bright colors, animal prints, fantastic accessories and massive adornments.
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The Olympus of style is still held by the magic of original ornaments, bright colors, animal prints, fantastic accessories and massive adornments.
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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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The results of several patented inventions investigate the dynamics of human skin cell subpopulation states. The immunological phenomena discovered thereby change not only the picture of skin conditions, but also the ideas about approaches to the diagnosis and treatment of skin diseases... read the article in full
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