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CMT

Type 1

Charcot Marie Tooth Disease

Type 1

This catalog of the Type 1 CMT subtypes represents the current publicly available information for the various subtypes of CMT1. This catalog is comprised of information from several publicly available reputable sources, and each listing includes links to those sources.

 

CMT Type 1 is a demyelinating peripheral polyneuropathy and is autosomal dominant in inheritance. The subtypes of CMT1 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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CMT2

CMT

Type 2

Axonal
and
Autosomal Recessive
In Inheritance

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CMT4

CMT

Type 4

Demyelinating
and
Autosomal Recessive
In Inheritance

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CMTX

X-Linked

CMT

X-Linked Dominant
and
X-Linked Recessive
In Inheritance

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CMT-DI

Dominant

Intermediate

Intermediate
and
Autosomal Dominant
In Inheritance

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CMT-RI

Recessive

Intermediate

Intermediate
and
Autosomal Recessive
In Inheritance

The Cryptid Sloth

Where CMT and Life Meet

CMT1A

PMP22 (Duplication)

CMT1A

Chromosome

17p.12-p11.2

Associated Gene

Autosomal Dominant

CMT1A is caused by a duplication of the PMP22 gene. Instead . . .

Demyelinating

CMT1C

LITAF

CMT1C

Chromosome

16p13.13

Associated Gene

Autosomal Dominant

CMT1C is caused by autosomal dominant mutations in the LITAF . . .

Demyelinating

CMT1E

PMP22 (Point Mutation)

CMT1E

Chromosome

17p12

Associated Gene

Autosomal Dominant

CMT1E is caused by autosomal dominant mutations in the PMP22 . . .

Demyelinating

CMT1B

MPZ

CMT1B

Chromosome

1q23.3

Associated Gene

Autosomal Dominant

CMT1B is caused by autosomal dominant mutations in the MPZ g . . .

Demyelinating

CMT1D

EGR2

CMT1D

Chromosome

10q21.3

Associated Gene

Autosomal Dominant

CMT1D is caused by autosomal dominant mutations in the EGR2 . . .

Demyelinating

CMT1F

NEFL

CMT1F

Chromosome

8p21.2

Associated Gene

Autosomal Dominant

CMT1F is caused by autosomal dominant mutations in the NEFL . . .

Demyelinating