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Charcot-Marie-Tooth disease axonal type 2X

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Description

Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016) For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

15

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Genes

External Links

  • OMIM

    616668

  • Orphanet

    466775

  • HPO
  • Medgen

    C4225253

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