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Diagnosis particularities in dystrophinopathies in women

Pop Anita, Cornitescu M., Plesca Doina Anca
Abstract: Dystrophinopathies are X- linked muscle diseases, more frequently expressed in males, but infrequently also the substrate of muscular pathology in females. Laboratory methods in the diagnosis of dystrophinopathies have been continuously improving, which permits a higher accuracy in the study of the involved genetic alterations and of their modes of transmission and expression.

Keywords: dystrophin, Duchenne and Becker muscular dystrophies, X-linked pathology in women, X chromosome inactivation


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