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Charcot-Marie-Tooth disease axonal type 2F

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Description

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.

ORDO

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Heterogeneous

VARIANTS

122

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Genes

External Links

  • OMIM

    606595

  • Orphanet

    99940

  • HPO
  • Medgen

    C1847823

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