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Revista chilena de radiología

versão On-line ISSN 0717-9308

Resumo

DIAZ J, Jorge; SUAZO R, Lionel; CASTIGLIONI T, Claudia  e  BEVILACQUA R, Jorge A. Utility of magnetic resonance imaging in the diagnosis of hereditary muscular diseases. Rev. chil. radiol. [online]. 2015, vol.21, n.4, pp.144-150. ISSN 0717-9308.  http://dx.doi.org/10.4067/S0717-93082015000400005.

Hereditary muscular diseases are rare disorders, due to a genetic defect that causes an alteration in the structure or function of the muscle fibers. They may present at any stage of life and their definitive diagnosis usually requires muscle biopsy. While the most frequent hereditary myopathies have a relatively characteristic clinical presentation, there is a substantial part thereof in which the symptoms are non-specific and the definitive diagnosis may take a long time. Magnetic Resonance Imaging (MRI) has earned a place in the diagnostic process of this last group of myopathies, confirming the presence of muscle involvement and raising diagnostic approaches based on its distribution, information that guides the immunohistochemical and/or genetic study necessary for the definitive diagnosis. In this article we review the basic study protocols with MRI of the myopathies and their interpretation, also showing some cases of these diseases.

Palavras-chave : Hereditary; MRI; Myopathies.

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