Autosomal dominant Charcot-Marie-Tooth disease type 2K

Synonyms: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K

Summary

A rare form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with characteristics of a mild phenotype, onset during the second decade of life and very slow progression. Walking ability is retained. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. [from SNOMEDCT_US]

Available tests

1 test is in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Molecular Genetics Tests

Sequence analysis of the entire coding region (1)

Reviews

Clinical resources

Consumer resources

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