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CMT1C
Demyelinating
Autosomal Dominant
Associated Gene
LITAF
Chromosome
16p13.13
Zygosity
Heterozygous
CMT1C is caused by autosomal dominant mutations in the LITAF gene. Disease presentation is typically similar to 1A, with symptom onset usually starting by the time the CMTer is in their 20s. A CMTer who has CMT1C will usually experience weakness in their feet and hands, and will experience sensory loss in the upper and lower limbs.
Rev. Date
1/10/21
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