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Fecha publicación: Hace 12 años 31 semanas
Autor: David A. Pérez Martínez

La premutación del gen FMR1 (Fragile X linked mental retardation tipo 1) es un trastorno de interés creciente para la neurología. La mutación completa de dicho gen en forma de expansión de tripletes produce el cuadro de retraso mental asociado a X frágil. Dicho trastorno es la principal causa de retraso mental hereditario, estimándose que uno de cada 4000 varones nacidos y uno de cada 6000 mujeres pueden estar afectados.