
CMT2B4
Associated Gene
MFN2
Chromosome
1p36.22
Autosomal Recessive
CMT2B4 is caused by autosomal recessive mutations in the MFN . . .
Axonal

CMT2C
Associated Gene
TRPV4
Chromosome
12q24.11
Autosomal Dominant
CMT2C is caused by autosomal dominant mutations in the TRPV4 . . .
Axonal

CMT2D
Associated Gene
GARS1
Chromosome
7p14.3
Autosomal Dominant
CMT2D is caused by autosomal dominant mutations in the GARS1 . . .
Axonal

CMT2B5
Associated Gene
NEFL
Chromosome
8p21.2
Autosomal Recessive
CMT2B5 is caused by autosomal recessive mutations in the NEF . . .
Axonal

CMT2CC
Associated Gene
NEFH
Chromosome
22q12.2
Autosomal Dominant
CMT2CC is caused by autosomal dominant mutations in the NEFH . . .
Axonal

CMT2DD
Associated Gene
ATP1A1
Chromosome
1p13.1
Autosomal Dominant
CMT2DD is caused by autosomal dominant mutations in the ATP1 . . .
Axonal

CMT
Type 2
Charcot Marie Tooth Disease
Type 2
This catalog of the Type 2 CMT subtypes represents the current publicly available information for the various subtypes of CMT2. This catalog is comprised of information from several publicly available reputable sources, and each listing includes links to those sources.
CMT Type 2 is an axonal peripheral polyneuropathy and can be autosomal dominant or autosomal recessive in inheritance. The subtypes of CMT2 each fit this description.
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.
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