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Charcot-Marie-Tooth Disease, Axonal, Type 2K (CMT2K)

Charcot-Marie-Tooth Disease, Axonal, Type 2K (CMT2K)

OMIM number: OMIM #607831

Comments closing date: 03/06/2022

We are applying for a license for Charcot-Marie-
Tooth disease type 2K (CMT2K), which is caused
by changes in the GDAP1 gene on chromosome
8q. Different heterozygous mutations in the
GDAP1 gene of this type, are inherited in an
autosomal dominant way. This milder phenotype
typically shows onset during the second decade of
life and is very slow in progression.

Review date: 6 May 2024