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Charcot-Marie-Tooth disease axonal type 2T

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Description

Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Autosomal recessive inheritance

VARIANTS

18

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Genes

External Links

  • OMIM

    617017

  • Orphanet

    443950

  • HPO
  • Medgen

    C4015635

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