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Results of medico-genetic study of patients with duchenne/becker progressive muscular dystrophies in Uzbekistan
Umida Tulkinovna Omonova
Language English Country Czech Republic Media elektronický zdroj
Digital library NLK
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ROAD: Directory of Open Access Scholarly Resources
from 2011 to 2017
- MeSH
- Biomarkers MeSH
- Databases, Factual MeSH
- Child MeSH
- Adult MeSH
- Muscular Dystrophy, Duchenne * diagnosis epidemiology genetics prevention & control MeSH
- Electromyography statistics & numerical data MeSH
- Phenotype MeSH
- Genetic Testing statistics & numerical data MeSH
- Genes, X-Linked MeSH
- Cohort Studies MeSH
- Humans MeSH
- Adolescent MeSH
- Child, Preschool MeSH
- Muscle Strength MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Child, Preschool MeSH
- Geographicals
- Uzbekistan MeSH
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.
Results of medico-genetic study of patients with duchenne/becker progressive muscular dystrophies in Uzbekistan [elektronický zdroj] /
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Literatura
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