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CMT1D is caused by autosomal dominant mutations in the EGR2 gene. CMT1D symptom onset is usually within the first 10 years. CMT1D tends to be severe with nerve conduction velocities <10 m/sec, and usually involves the cranial nerves and the nerves that control the respiratory muscles.
Autosomal recessive mutations in the EGR2 gene are associated with causing CMT4E.
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