CMTX1

CMTX1

Associated Gene

GJB1

Chromosome

Xq13.1

X-Linked Dominant

CMTX1 is caused by X-Linked dominant mutations in the GJB1 g . . .

Intermediate

CMTX3

CMTX3

Associated Gene

Genomic Rearrangement

Chromosome

Xp26

X-Linked Recessive

The underlying genetic cause of CMTX3 is a genomic rearrange . . .

Intermediate

CMTX5

CMTX5

Associated Gene

PRPS1

Chromosome

Xq22.3

X-Linked Recessive

CMTX5 is caused by X-Linked recessive mutations in the PRSP1 . . .

Axonal

CMTX2

CMTX2

Associated Gene

Gene Unknown

Chromosome

Xp22.2

X-Linked Recessive

The underlying genetic cause of CMTX2 has not yet been ident . . .

Intermediate

CMTX4

CMTX4

Associated Gene

AIFM1

Chromosome

Xq26.1

X-Linked Recessive

CMTX4 is caused by X-Linked recessive mutations in the AIFM1 . . .

Axonal

CMTX6

CMTX6

Associated Gene

PDK3

Chromosome

Xp22.11

X-Linked Dominant

CMTX6 is caused by X-Linked dominant mutations in the PDK3 g . . .

Axonal

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CMT

X-Linked

Charcot Marie Tooth Disease

X-Linked (CMTX)

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

 

X-Linked CMT is a peripheral polyneuropathy whose underlying genetic mutation is in a gene that lives on the X chromosome. X-Linked CMT can be X-Linked dominant or X-Linked recessive in inheritance. The subtypes of CMTX 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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CMT1

CMT

Type 1

Demyelinating
and
Autosomal Dominant
In Inheritance

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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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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