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1. Results of medico-genetic study of patients with duchenne/becker progressive muscular dystrophies in Uzbekistan

Creator:
Omonova, Umida Tulkinovna
Format:
electronic, electronic resource, remote, and elektronický zdroj
Type:
model:article, article, Text, and TEXT
Subject:
Duchennova muskulární dystrofie--diagnóza--epidemiologie--genetika--prevence a kontrola, kohortové studie, genetické testování--statistika a číselné údaje, databáze faktografické, elektromyografie--statistika a číselné údaje, svalová síla, geny vázané na chromozom X, fenotyp, biologické markery, mladiství, dospělí, dítě, předškolní dítě, lidé, and mužské pohlaví
Language:
English
Description:
The purpose of study was to analyze clinical and genetic polymorphism of Duchenne/Becker progressive muscular dystrophies among patients with neuromuscular diseases in Uzbekistan. 106 male patients with progressive pseudohypertrophic forms of muscular dystrophy were retrospectively and prospectively analyzed in the period from 2004 till 2014: 93 patients with Duchenne PMD aged from 3 years to 18 years and 13 patients with Becker PMD aged from 10 years to 25 years, who had been examined in the medico-genetic consulting department of the Republican Center “Mother and Child Screening” of Tashkent city. Comprehensive clinical, neurophysiological, biochemical and genetic study of patients as the integral part in the differential diagnosis of Duchenne/Becker progressive muscular dystrophies allows creating the national database on D/B PMD to prevent the birth of children in families burdened by this disease., Umida Tulkinovna Omonova, and Literatura
Rights:
http://creativecommons.org/publicdomain/mark/1.0/ and policy:public