CMTRIA
Associated Gene
Chromosome
8q21.11
GDAP1
Autosomal Recessive
Recessive Intermediate CMT-A is caused by autosomal recessiv . . .
Intermediate
CMTRIC
Associated Gene
Chromosome
1p36.31
PLEKHG5
Autosomal Recessive
Recessive Intermediate CMT-C is caused by autosomal recessiv . . .
Intermediate
CMTRIB
Associated Gene
Chromosome
16q23.1
KARS1
Autosomal Recessive
Recessive Intermediate CMT-B is caused by autosomal recessiv . . .
Intermediate
CMTRID
Associated Gene
Chromosome
12q24.31
COX6A1
Autosomal Recessive
Recessive Intermediate CMT-D is caused by autosomal recessiv . . .
Intermediate
CMT
Recessive Intermediate
Charcot Marie Tooth Disease
Recessive Intermediate
(CMT-RI)
This catalog of the Recessive Intermediate CMT subtypes represents the current publicly available information for the various subtypes of CMT-RI. This catalog is comprised of information from several publicly available reputable sources, and each listing includes links to those sources.
Recessive Intermediate CMT is a type of CMT in which the nerve conduction characteristics overlap that which is seen in demyelinating CMT and that which is seen in axonal CMT. Recessive Intermediate CMT isn’t necessarily a demyelinating CMT nor an axonal CMT, it is somewhere in between—it is intermediate. CMT-RI is autosomal recessive in inheritance. The subtypes of CMT-RI each fit these descriptions.
Every effort is made to provide the most accurate and up-to-date information. However, CMT subtype names can change at any time and without notice. Therefore, the accuracy of this catalog cannot be guaranteed.
The information provided in this catalog is provided for reference and informational purposes only. The information provided is not intended to diagnose any medical condition anybody might have, and this catalog should not be construed as medical advice. Always consult with a qualified physician or healthcare provider and follow their guidance.
Quick Links
Jump To