top of page
Associated Gene
Dominant Intermediate CMT-F is caused by autosomal dominant mutations in the GNB4 gene. This is an exceedingly rare type of CMT and not much is known about it.
CMTDIF symptom onset can occur anywhere between early childhood and early adulthood. CMTers who have CMTDIF can experience a wide range of variability in disease severity, disease progression, and in nerve conduction characteristics.
CMTDIF
Intermediate
Autosomal Dominant
GNB4
Chromosome
3q26.33
Zygosity
Heterozygous
Rev. Date
1/10/21
bottom of page