文章基本信息

标题：Detection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA
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作者：Saeed Dorgaleleh ; Karim Naghipoor ; Ahmad Ahmad Barahouie 等
期刊名称：International Journal of Pediatrics
印刷版ISSN：2345-5047
电子版ISSN：2345-5055
出版年度：2020
卷号：8
期号：7
页码：11617-11623
DOI：10.22038/ijp.2019.44834.3701
出版社：Mashhad University of Medical Sciences
摘要：Background
Duchenne Muscular Dystrophy (DMD) is a deadly X-linked recessive disorder. This genetic disorder affects 1 among 3,500-5,000 males in the world. The majority of the patients are male, due to the type of inheritance. It affects most of the skeletal, the respiratory, and cardiac muscles, causing these vital organs to contract and eventually mortality.
Materials and Methods
This study was performed on two boys of 7 and 9 years old with DMD, which were belonged to one family who was consanguinity married. These tests were conducted during a year including LDH, cK, AST, ALT, MRI, EMG, NCV, and MLPA. These tests evaluate the production and function of dystrophin proteins in muscles.
Results
The amount of cK and LDH increased during one year of study in patients. According to the positive family history of hydrocephaly and anencephaly, MRI patients were normal. Regarding the fact that the patients have DMD, the result of EMG and NCV showed Myopathy. MLPA test identified duplication in 56-63 exons.
Conclusion
This study investigated the duplication mutation in Duchenne Muscular Dystrophy (DMD) in two members of the same family. Other mutations such as duplication and point mutations consisted of a small percentage of the disease. Therefore, it is recommended that programs of the prevention measures and pre-marital genetic counseling be specifically trained by the Ministry of Health and Medical Education and relevant organizations.
关键词：Duchenne muscular dystrophy; Dystrophin; X-linked recessive; Duplication MLPA