CMTRIA

CMTRIA

Associated Gene

Chromosome

8q21.11

GDAP1

Autosomal Recessive

Recessive Intermediate CMT-A is caused by autosomal recessiv . . .

Intermediate

CMTRIC

CMTRIC

Associated Gene

Chromosome

1p36.31

PLEKHG5

Autosomal Recessive

Recessive Intermediate CMT-C is caused by autosomal recessiv . . .

Intermediate

CMTRIB

CMTRIB

Associated Gene

Chromosome

16q23.1

KARS1

Autosomal Recessive

Recessive Intermediate CMT-B is caused by autosomal recessiv . . .

Intermediate

CMTRID

CMTRID

Associated Gene

Chromosome

12q24.31

COX6A1

Autosomal Recessive

Recessive Intermediate CMT-D is caused by autosomal recessiv . . .

Intermediate

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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.

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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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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

The Cryptid Sloth

Where CMT and Life Meet