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

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Autores

Ana Isabel Sánchez
Nathalie Mariño
Andrés Felipe Araujo
Eugenia Espinosa

Resumen

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 cromosoma X, locus Xp21.1. En relación con el tipo de mutaciones reportadas en el gen DMD, las delecciones  y las mutaciones puntuales son las más comunes,  mientras que las duplicaciones corresponden a 10-12%. Aunque las duplicaciones que abarcan el exón 5 ya han sido reportadas en la literatura, a la fecha no existen informes de casos que establezcan una relación genotipo fenotipo clara.  Presentamos el caso de un paciente con distrofia muscular de Becker con un fenotipo no tan severo, en quien se encontró una duplicación en el exón 5.  Con este caso pretendemos profundizar en la relación genotipo-fenotipo de la DMB, reportando las características clínicas en relación con la duplicación del exón 5 encontrada.

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Referencias

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