Detection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

Dorgaleleh Saeed; Naghipoor Karim; Barahouie Ahmad; OLADNABI MORTEZA

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: Journal of Pediatric Perspectives Year:2020 | Volume:8 | Issue:7 (79) Page(s): 11617-11623

Download Full-Text

View:

103

Download:

105

Cites:

Information Journal Paper

Title

Detection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA

Author(s)

Dorgaleleh Saeed | Naghipoor Karim | Barahouie Ahmad | OLADNABI MORTEZA | Issue Writer Certificate

Keywords

Duchenne muscular dystrophy

Dystrophin

X-linked recessive

Duplication MLPA

Abstract

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.

Cites

No record.

References

Cite

APA: Copy

Dorgaleleh, Saeed, Naghipoor, Karim, Barahouie, Ahmad, & OLADNABI, MORTEZA. (2020). Detection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA. INTERNATIONAL JOURNAL OF PEDIATRICS, 8(7 (79)), 11617-11623. SID. https://sid.ir/paper/778511/en

Vancouver: Copy

Dorgaleleh Saeed, Naghipoor Karim, Barahouie Ahmad, OLADNABI MORTEZA. Detection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA. INTERNATIONAL JOURNAL OF PEDIATRICS[Internet]. 2020;8(7 (79)):11617-11623. Available from: https://sid.ir/paper/778511/en

IEEE: Copy

Saeed Dorgaleleh, Karim Naghipoor, Ahmad Barahouie, and MORTEZA OLADNABI, “Detection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA,” INTERNATIONAL JOURNAL OF PEDIATRICS, vol. 8, no. 7 (79), pp. 11617–11623, 2020, [Online]. Available: https://sid.ir/paper/778511/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops