Description
LAP Lambert Academic Publishing Nasledstvennaya Motorno-Sensornaya Neyropatiya 1 X Tipa 2012 Edition by Sharkova Inna Valentinovna
Rabota posvyashchena aktual'noy probleme klinicheskoy genetiki - sovershenstvovaniyu diagnostiki i profilaktiki nasledstvennoy motorno-sensornoy neyropatii 1 Kh tipa (NMSN 1 Kh), kotoraya yavlyaetsya naibolee rasprostranennoy formoy nasledstvennykh demieliniziruyushchikh polineyropatiy i sostavlyaet 20% ot vsekh geneticheskikh variantov etoy gruppy bolezney. Provedennyy analiz osobennostey klinicheskikh proyavleniy NMSN 1 Kh pri nalichii mutatsiy v gene GJB1, narushayushchikh funktsionirovanie vos'mi domenov belka konneksina 32, pozvolil sdelat' vyvod ob ikh razlichnoy funktsional'noy znachimosti i prognozirovat' tyazhest' techeniya zabolevaniya u bol'nykh v zavisimosti ot lokalizatsii mutatsiy. Izuchenie kliniko-geneticheskikh kharakteristik 104 bol'nykh iz Rossii s NMSN 1 Kh tipa pozvolilo prosledit' dinamiku formirovaniya patologicheskogo simptomokompleksa i opredelit' spektr simptomov, kharakternykh dlya razlichnykh stadiy patologicheskogo protsessa. Na osnovanii analiza klinicheskikh proyavleniy NMSN 1 Kh tipa u bol'nykh muzhskogo i zhenskogo pola vyyavleny gendernye osobennosti techeniya zabolevaniya.