1.A Clinical Study on Duchenne Muscular Dystrophy in Childhood.
Chung Il NOH ; Yong Seung HWANG
Journal of the Korean Pediatric Society 1985;28(6):581-586
No abstract available.
Muscular Dystrophy, Duchenne*
2.A nonsense mutation effects mRNA splicing process of dystrophin gene
Journal of Medical Research 2008;54(2):19-23
Background: Production of semi-functional dystrophin protein from the dystrophin gene encoded with a premature stop codon has been shown to modify the severe phenotype of Duchenne Muscular Dystrophy (DMD). The mutation of the dystrophin gene affects the process of complete mRNA and is important in gene therapy. Objective: To analyze the mutation of dystrophin gene in DMD cases. Subjects and methods: A patient with diagnosed with DMD when he was 2 years old, and at age 9, he was completely disabled and had to use a wheelchair. DNA and total RNA were extracted from fresh peripheral blood; cDNA was synthesized by transcript polymerase chain reaction (RT - PCR). PCR, nested PCR or sequence methods were used to determine the mutation of the dystrophin gene. Results: A nonsensical mutation (E638) due to a single nucleotide change in exon 17 of the dystrophin gene (GAA2047TAA) was identified. This mutation affects mRNA splicing process and induces complete exon 17 skipping. Conclusion: Patients, who had E638X mutation with exon 17 deletion in the dystrophin gene, had clinical symptoms of Becker Muscular Dystrophy (BMD). This discovery as a potential target for therapeutic strategies for DMD, to change the severe phenotype of DMD to a milder phenotype (BMD), in order to improve clinical conditions for the patients.
Duchenne muscular dystrophy
;
dystrophin gene
3.Investigating one case of deletion of 27 exons espanding at rod domain of dystrophin gene in a Duchenne Muscular Dystrophy
Journal of Vietnamese Medicine 2005;309(4):23-28
A majority deletion of 27 exons expanding from 8-34 at rod domain of dystrophic gene was identified in a Duchene Muscular Dystrophy (DMD) patients. Polymerase chain reaction (PCR) was used to analyze the deletion. The deletion caused an out of frame mutation leading to nonsense mutation which early stops code in exon 35 of dystrophic gene. The DMD gene was analyzed at both genomic DNA and mRNA levels. Identification of deletion at mRNA level is very useful for rapid diagnosis of DMD patients and avoid missing some mutations that we can’t identify at DNA level
Muscular Dystrophy, Duchenne
;
Dystrophin
;
Genes
4.Mutation in the Rod domain of dystrophin gene caused Duchenne muscular dystrophy disease
Journal of Vietnamese Medicine 2005;311(6):33-39
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
Muscular Dystrophy, Duchenne
;
Muscular Dystrophies
;
Genes
5.A clinical study on Duchenne muscular dystrophy.
Moon Sun YANG ; Su Ahn CHAE ; Ki Joong KIM ; Yong Seung HWANG
Journal of the Korean Pediatric Society 1992;35(5):652-658
No abstract available.
Intellectual Disability
;
Muscle Weakness
;
Muscular Dystrophy, Duchenne*
6.Duchenne Muscular Dystrophy Complicated With Dilated Cardiomyopathy and Cerebral Infarction.
Tae Jin SONG ; Hanna CHO ; Jum Bum LEE ; Myung Jun LEE ; Kyung Im SEO ; Sun Jung KIM ; Young Chul CHOI
Journal of the Korean Neurological Association 2009;27(1):82-84
Duchenne muscular dystrophy, Cerebral infarction, Dilated cardiomyopathy
Cardiomyopathy, Dilated
;
Cerebral Infarction
;
Muscular Dystrophy, Duchenne
7.Detection of mutant dystrophin gene carrier using quantitative Polymerase Chain Reaction
Suong Thi Bang Nguyen ; Khanh Van Tran ; Hoan Thi Nguyen ; Ha Thi Nguyen ; Van Thanh Ta
Journal of Medical Research 2008;59(6):1-10
Background: Deletion and duplication mutations of dystrophin gene make up from 70 to 75% of patients with Duchenne Muscular Dystrophy (DMD). Two thirds of children with DMD inherited from the heterozygous mothers the mutated gene which is located on one of the sex chromosomes. Objective: To detect the asymptomatic carriers of dystrophin gene mutation using molecular techniques. Subject and methods: 3 DMD patients and their 9 relatives. Using techniques: DNA extraction and quantitative Polymerase Chain Reaction (PCR). Results: Successfully detected 4 heterozygous individuals from 9 female members of three different families that have already confirmed DMD patients. Conclusion: This method could lead to a new way of prenatal diagnosis of DMD as well as other genetic disorders that are caused by deletion or duplication mutation.
Duchenne muscular dystrophy
;
carrier
;
quantitative PCR
8.Value of creatine kinase in early diagnosis, detection of the heterozygote, primary research gene level of Duchenne muscular dystrophy in Vietnamese patients
Journal of Medical Research 2003;23(3):114-119
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.
diagnosis
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Creatine Kinase
;
Heterozygote
;
Muscular Dystrophy, Duchenne
10.Research progress on congenital muscular dystrophy.
Hui XIONG ; Yun YUAN ; Xi-ru WU
Chinese Journal of Pediatrics 2005;43(12):958-961