Duchenne and Becker Muscular Dystrophy: Contribution of a Molecular and Immunohistochemical Analysis in Diagnosis in Morocco
Joint Authors
Hamzi, Khalil
Bellayou, Hanane
Azeddoug, Houssine
Karkouri, Mehdi
Rafai, Mohamed Abdou
Nadifi, Sellama
Slassi, Ilham
Source
Issue
Vol. 2009, Issue 2009 (31 Dec. 2009), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2009-05-19
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21.
In DMD patients, dystrophin is virtually absent; whereas BMD patients have 10% to 40% of the normal amount.
Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients.
To explain the contribution of immunohistochemical and genetic analysis in the diagnosis of these dystrophies, we present 10 cases of DMD/BMD with particular features.
We have analyzed the patients with immunohistochemical staining and PCR multiplex to screen for exons deletions.
Determination of the quantity and distribution of dystrophin by immunohistochemical staining can confirm the presence of dystrophinopathy and allows differentiation between DMD and BMD, but dystrophin staining is not always conclusive in BMD.
Therefore, only identification involved mutation by genetic analysis can establish a correct diagnosis.
American Psychological Association (APA)
Bellayou, Hanane& Hamzi, Khalil& Rafai, Mohamed Abdou& Karkouri, Mehdi& Slassi, Ilham& Azeddoug, Houssine…[et al.]. 2009. Duchenne and Becker Muscular Dystrophy: Contribution of a Molecular and Immunohistochemical Analysis in Diagnosis in Morocco. BioMed Research International،Vol. 2009, no. 2009, pp.1-5.
https://search.emarefa.net/detail/BIM-988349
Modern Language Association (MLA)
Bellayou, Hanane…[et al.]. Duchenne and Becker Muscular Dystrophy: Contribution of a Molecular and Immunohistochemical Analysis in Diagnosis in Morocco. BioMed Research International No. 2009 (2009), pp.1-5.
https://search.emarefa.net/detail/BIM-988349
American Medical Association (AMA)
Bellayou, Hanane& Hamzi, Khalil& Rafai, Mohamed Abdou& Karkouri, Mehdi& Slassi, Ilham& Azeddoug, Houssine…[et al.]. Duchenne and Becker Muscular Dystrophy: Contribution of a Molecular and Immunohistochemical Analysis in Diagnosis in Morocco. BioMed Research International. 2009. Vol. 2009, no. 2009, pp.1-5.
https://search.emarefa.net/detail/BIM-988349
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-988349