CMTX1
Associated Gene
GJB1
Chromosome
Xq13.1
X-Linked Dominant
CMTX1 is caused by X-Linked dominant mutations in the GJB1 g . . .
Intermediate
CMTX3
Associated Gene
Genomic Rearrangement
Chromosome
Xp26
X-Linked Recessive
The underlying genetic cause of CMTX3 is a genomic rearrange . . .
Intermediate
CMTX5
Associated Gene
PRPS1
Chromosome
Xq22.3
X-Linked Recessive
CMTX5 is caused by X-Linked recessive mutations in the PRSP1 . . .
Axonal
CMTX2
Associated Gene
Gene Unknown
Chromosome
Xp22.2
X-Linked Recessive
The underlying genetic cause of CMTX2 has not yet been ident . . .
Intermediate
CMTX4
Associated Gene
AIFM1
Chromosome
Xq26.1
X-Linked Recessive
CMTX4 is caused by X-Linked recessive mutations in the AIFM1 . . .
Axonal
CMTX6
Associated Gene
PDK3
Chromosome
Xp22.11
X-Linked Dominant
CMTX6 is caused by X-Linked dominant mutations in the PDK3 g . . .
Axonal
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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