Value of creatine kinase in early diagnosis, detection of the heterozygote, primary research gene level of Duchenne muscular dystrophy in Vietnamese patients
- Author:
Nguyen Thu Nhan
- Publication Type:Journal Article
- Keywords:
creatine kinase, duchenne muscular dystrophy
- MeSH:
diagnosis;
Creatine Kinase;
Heterozygote;
Muscular Dystrophy, Duchenne
- From:Journal of Medical Research
2003;23(3):114-119
- CountryViet Nam
- Language:Vietnamese
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Abstract:
The study included 112 patients with diagnosis of DMD at National Institute of Pediatrics and 24 patient’s brothers. The results showed that: value of definitive diagnosis of creatine kinase (CK) test were 100% (CK levels of 100% patients were higher than CK levels of normal children). CK method could detect very early DMD even patients who were not yet clinical expression (11/24 patient’s were not yet clinical expression detected DMD by CK). The value of CK for heterozygote detection was 82.3% for DMD patient’s mothers who had clearly family history and 35.3% for DMD patient’s mothers who had only one child with DMD in the family. Based on PCR result analysis, gene mutation of two DMD patient with clearly family history had not belonged to 48- exon.
