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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease axonal type 2K

Summary

A severe early-onset form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. Onset occurs in the neonatal period or early infancy with a clinical picture including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency. However, nerve conduction velocities and pathological findings from sural nerve biopsies are indicative of a predominantly axonal neuropathy with some demyelinating features. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. [from SNOMEDCT_US]

Available tests

47 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CMT4, CMT4A, CMTRIA, GDAP1
    Summary: ganglioside induced differentiation associated protein 1

  • Also known as: CMT2K, JP-1, JP1, JPH1
    Summary: junctophilin 1

Clinical features

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