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

CMTDIF

Intermediate

Autosomal Dominant

Associated Gene

GNB4

Chromosome

3q26.33

Zygosity

Heterozygous

Rev. Date

1/10/21

Sources

CMTA
INC