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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 1F

Summary

A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. Caused by mutations in the NEFL gene (8p21.2). [from SNOMEDCT_US]

Available tests

45 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110, NEFL
    Summary: neurofilament light chain

Clinical features

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