CMTRIB

CMTRIB

Intermediate

Autosomal Recessive

Associated Gene

KARS1

Chromosome

16q23.1

Zygosity

Compound Heterozygous

Recessive Intermediate CMT-B is caused by autosomal recessive mutations in the KARS1 gene. This is a very rare type of CMT and not much is known. There are reports of CMTRIB including developmental delays and dysmorphic features.

Nerve conduction characteristics of CMTRIB more closely resemble that which is seen in Type 2 CMT, and some have argued that this type should be reclassified as a Type 2 CMT.

Rev. Date

1/10/21

Sources

CMTA
INC