{"product_id":"miotonicheskaq-distrofiq-tipa-1-narushenie-axpansii-treh-powtorow-von-ashok-kumar-und-sarita-agarwal","title":"Miotonicheskaq distrofiq tipa 1: narushenie äxpansii treh powtorow","description":"\u003cp\u003eMiotonicheskaq distrofiq - äto autosomno-dominantnoe mul'tisistemnoe zabolewanie, kotoroe harakterizuetsq miotonicheskoj miopatiej. Simptomy i stepen' tqzhesti miotonicheskoj distrofii tipa l (DM1) war'iruütsq ot tqzhelyh i wrozhdennyh form, kotorye chasto priwodqt k smerti iz-za dyhatel'noj nedostatochnosti, do pozdnego oblyseniq i katarakty. U wzroslyh pacientow mogut woznikat' anomalii serdechnoj prowodimosti, kotorye priwodqt k sokrascheniü prodolzhitel'nosti zhizni. V posleduüschih pokoleniqh simptomy SD1 mogut proqwlqt'sq w bolee rannem wozraste i imet' bolee tqzheloe techenie (predwidenie). Skrining na osnowe PCR qwlqetsq nadezhnym i dolzhen ispol'zowat'sq w kachestwe perwonachal'nogo skriningowogo testa dlq diagnostiki SD, a polozhitel'nye rezul'taty dolzhny byt' podtwerzhdeny metodom üzhnogo blotinga. Molodym lüdqm, stradaüschim SD ili whodqschim w gruppu riska, celesoobrazno predlozhit' geneticheskoe konsul'tirowanie. V nastoqschee wremq wedetsq razrabotka rqda perspektiwnyh i äffektiwnyh antismyslowyh oligonukleotidow i malyh molekul, odnako predstoit esche mnogo raboty. V nastoqschee wremq dostignut znachitel'nyj progress, no dlq ponimaniq molekulqrnogo patogeneza SD1 i razrabotki bezopasnyh i äffektiwnyh strategij lecheniq potrebuütsq dopolnitel'nye fundamental'nye i translqcionnye issledowaniq.\u003c\/p\u003e\u003cdiv class=\"aw-variant-hidden-subtitle-div\" id=\"aw-variant-subtitle-9786208160258\"\u003e\u003ch3\u003e\u003c\/h3\u003e\u003c\/div\u003e","brand":"Autorenwelt Shop","offers":[{"title":"Softcover - 9786208160258","offer_id":50235915829573,"sku":"9786208160258","price":45.9,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0940\/0622\/files\/d9cd5583-d9e5-40b9-81eb-6661427da2d1.jpg?v=1750655109","url":"https:\/\/shop.autorenwelt.de\/en\/products\/miotonicheskaq-distrofiq-tipa-1-narushenie-axpansii-treh-powtorow-von-ashok-kumar-und-sarita-agarwal","provider":"Autorenwelt Shop","version":"1.0","type":"link"}