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Journal of Biomedicine and Biotechnology
Volume 2009, Article ID 325210, 5 pages
http://dx.doi.org/10.1155/2009/325210
Research Article

Duchenne and Becker Muscular Dystrophy: Contribution of a Molecular and Immunohistochemical Analysis in Diagnosis in Morocco

1Genetic and Molecular Pathology Laboratory, Medical School, Hassan II University, 19, rue Tarik-Ibn-Ziad, BP 9154, 10000 Casablanca, Morocco
2UFR of Biology and Healthy, Laboratory of Biochemistry and Molecular Biology, Faculty of Sciences, Hassan II University, Ain Chock, PB 5366, Maarif , 20100 Casablanca, Morocco
3Neurology Department, Ibn Rochd Hospital, District Hospitals, Casablanca, Morocco
4Anathomopathology Department, Ibn Rochd Hospital, District Hospitals, Casablanca, Morocco

Received 10 July 2008; Revised 29 December 2008; Accepted 24 February 2009

Academic Editor: Kanury Rao

Copyright © 2009 Hanane Bellayou et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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.