Mutation in the Rod domain of dystrophin gene caused Duchenne muscular dystrophy disease
- Author:
Tran Van Khanh
- Publication Type:Journal Article
- Keywords:
Duchenne muscular dystrophy
- MeSH:
Muscular Dystrophy, Duchenne;
Muscular Dystrophies;
Genes
- From:Journal of Vietnamese Medicine
2005;311(6):33-39
- CountryViet Nam
- Language:Vietnamese
-
Abstract:
Analysis of gene mutation at AND degree on 2 patients with Duchenne having clinical complications: muscle weakness occurred early and progressive, enlarged leg muscles, increased CK level in peripheral blood, muscle biopsy present specific image of the disease. 19 exon were the most commonly mutated on dystrophin gene were selected to implement PCR reaction. Results showed that exon 45 had partial deletion phenomenon in all two patients while exon 44 and 48 had not this model. The patients were determined as bearing consecutive partial delete mutation of three exon 45, 46, 47 on dystrophin gene. This mutation caused incorrect coding frame
