Muscular and cardiac manifestations in a Duchenne-carrier harboring a dystrophin deletion of exons 12-29

Female carriers of mutations in the dystrophin gene (DMD-carriers) may manifest clinically in the skeletal muscle, the heart, or both. Cardiac involvement may manifest before, after, or together with the muscle manifestations. A 46y female developed slowly progressive weakness of the lower and upper...

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Publicado en:Intractable Rare Dis Res
Autores principales: Finsterer, Josef, Stöllberger, Claudia, Freudenthaler, Birgit, Simoni, Desiree De, Höftberger, Romana, Wagner, Klaus
Formato: Artigo
Lenguaje:Inglês
Publicado: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2018
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5982619/
https://ncbi.nlm.nih.gov/pubmed/29862154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2018.01003
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