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Distrofia muscular de Becker con duplicación en el exón 5 del gen DMD

Sánchez, Ana Isabel; Mariño, Nathalie; Araujo, Andrés Felipe; Espinosa, Eugenia.
Repert. med. cir; 28 (2), 2019
Las distrofinopatías son un grupo de enfermedades ligadas al cromosoma X que abarcan diferentes entidades, siendo las más importantes la distrofia muscular de Duchenne (DMD) y la de Becker (DMB). Están causadas por mutaciones en el gen de la distrofina (gen DMD) localizado en el ...
Distrofias Musculares, Distrofia Muscular de Duchenne, Distrofia Muscular de Emery-Dreifuss Ligada a X
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Ischemic stroke in a young patient due to protein S deficiency in the context of muscular dystrophy - case report

Vega-Padilla, Juan-David; Vivas-Suarez, Juan-David; Sánchez-Jiménez, Jorge-Andrés; Vargas-Quintana, Viviana-Carolina.
Rev. Investig. Salud. Univ. Boyacá ; 5 (2), 2018
A 19-year-old woman with a 6-year history, consisting of frequent falls and weakness due to loss of strength in the lower extremities. During the last 10 hours, she presented a sudden episode of left hemiplegia, deviation of the labial commissure to the right, dysarthria and four emetic episodes. She was...
Accidente Cerebrovascular, Trombofilia, Distrofias Musculares
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