1. Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical 2. Alizadeh Medical Genetic Councelling Center , Ilam university of Medical Sciences 3. Assistant Professor, Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Scie
Abstract
Introduction
Duchenne muscular dystrophy is the most prevalent x-linked recessive of progressive neuromuscular diseases. the disease is caused by mutations in the dystrophin gene. this disease generally affects only boys. the main symptoms of this disorder are proximal muscle weakness. dmd disease progresses rapidly, and patients usually need wheelchairs at the age of 10 years and most of them die because of cardiac and respiratory complications.
duchenne muscular dystrophy is the most prevalent x-linked recessive of progressive neuromuscular diseases. the disease is caused by mutations in the dystrophin gene. this disease generally affects only boys. the main symptoms of this disorder are proximal muscle weakness. dmd disease progresses rapidly, and patients usually need wheelchairs at the age of 10 years and most of them die because of cardiac and respiratory complications.
duchenne muscular dystrophy is the most prevalent x-linked recessive of progressive neuromuscular diseases. the disease is caused by mutations in the dystrophin gene. this disease generally affects only boys. the main symptoms of this disorder are proximal muscle weakness. dmd disease progresses rapidly, and patients usually need wheelchairs at the age of 10 years and most of them die because of cardiac and respiratory complications.
Methods
The subject was an 8-year-old child with classical symptoms of muscle weakness. the sequencing of the patient genome was accomplished by the next generation sequencing method and all exons of dystrophin gene were analyzed by mlpa technique to detect of exon deletions or duplications.
Results
Our data showed a micro-duplication in dystrophin genes encompassing the exons 10-42. the mlpa confirmed this duplication in the patient.
Conclusion
We recommended that ngs method is an efficient, powerful and cost effective strategy to molecular diagnosis of dmd patients.
