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Síndrome de Temblor Ataxia asociado a Síndrome de X Frágil

Description

Herencia dominante ligada al X
cecilia montes
Mind Map by cecilia montes, updated more than 1 year ago
cecilia montes
Created by cecilia montes almost 5 years ago
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Resource summary

Síndrome de Temblor Ataxia asociado a Síndrome de X Frágil
  1. Frecuencia

    Annotations:

    • 40% hombres premutados gen FMR1 16% mujeres premutadas gen FMR1
    1. Causado por premutación en el gen FMR

      Annotations:

      • Premutación 55-200 repeticiones CGG del gen FMR1 Mutación completa: +200 repeticiones del gen FMR1 Zona gris: 45-55 repeticiones del gen FMR1
      1. Clínica

        Annotations:

        • Temblor intencional parquinsonismo demencia retaso cognitivo patologia psiquiatricaFallo ovarico prematuro
        1. Fenotipo
        2. Herencia
          1. Histopatología
            1. Tratamiento
              1. Farmacológico
                1. Estilo de Vida

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