No abstract available.
Muscular Dystrophy, Duchenne*

No abstract available.
Muscular Dystrophy, Facioscapulohumeral

No abstract available.
Muscular Dystrophy, Facioscapulohumeral*

No abstract available.
Muscular Dystrophy, Oculopharyngeal*

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

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

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

No abstract available.
Muscular Dystrophy, Duchenne* ; Polymorphism, Restriction Fragment Length*

No abstract available.
Intellectual Disability ; Muscle Weakness ; Muscular Dystrophy, Duchenne*

Duchenne muscular dystrophy, Cerebral infarction, Dilated cardiomyopathy
Cardiomyopathy, Dilated ; Cerebral Infarction ; Muscular Dystrophy, Duchenne