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Year : 2019  |  Volume : 3  |  Issue : 3  |  Page : 241-244

Dystrophin-associated muscular dystrophies: Learning from genetics to guide therapeutics

Medical Laboartories, Faculty of Applied Medical Science, Taibah University; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwwarah, Saudi Arabia

Correspondence Address:
Dr. Naif A.M. Almontashiri
Center for Genetics and Inherited Diseases, Taibah University, P.O. Box 42318, Almadinah Almunwwarah
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jmsr.jmsr_48_19

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Dystrophin-associated muscular dystrophies represent an X-linked group of disorders, with spectrum of clinical phenotypes caused by mutations in the Duchenne muscular dystrophy (DMD) gene. Based on the genotype and predicted impact of the mutations on the function and expression of dystrophin, the clinical phenotype ranges from severe-to-mild muscular diseases, namely DMD, Becker muscular dystrophy, and dilated cardiomyopathy. Diagnosis, prediction of severity, and management of dystrophinopathies are largely based on the type of mutations and their impact on the dystrophin expression or function. In this review, we highlight the clinical and molecular etiologies and spectrum of the dystrophin-associated muscular dystrophies. We provide an overview on the molecular testing approach for the molecular diagnosis of cases with suspicion of or clinical diagnosis of dystrophinopathies. Finally, we provide an updated summary of the current therapeutic advances using gene therapy and editing technologies to treat or mitigate dystrophin-associated muscular dystrophies.

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