Identificación de mutaciones y diagnóstico molecular de portadoras en familias mexicanas con distrofia muscular Duchenne/Becker

• Canizales, S. ^[1] ; Salamanca, F. ^[1] ; García, N. ^[1] ; Arenas, D. ^[1]
  1. [1] UIM Genética Humana, Centro Médico Nacional Siglo XXI, IMSS
• Localización: Nova scientia, ISSN-e 2007-0705, Vol. 1, Nº. 1, 2008, págs. 136-149
• Idioma: español
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• Resumen

  • Duchenne/Becker muscular Dystrophy (DMD/BMD) is the most common hereditary miopathy in the human populations. It is characterized by a muscular progressive weakness that causes, for the Duchenne type, the death of the patient for cardiac and / or respiratory fault during the second decade of his life. For the Becker type, the muscular alterations are less severe and the patients generally survive up to the adult age...