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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

В любой культуре есть ритуалы, некоторые из них ориентированы на улучшение здоровья, как физического, так и психического... читать о моём опыте

Conversation on Facebook:
– Where are you?
– Travelling.
– Where this time?
– Where cannibals live.
– ...How are you?
– All parts of my body still belong to me!:)

Seems funny? Click the "like" button. Somebody will say – it can’t be true, what cannibals these days?! A year later after we spent 3 weeks in company with true cannibals as participants of the expedition "Live Parallel in Papua New Guinea", I can hardly believe it myself. Shall we remember it together?

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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