The CMT Glossary provides definitions for scientific and medical terms commonly used and heard in CMT.
This resource is offered for general informational purposes only and is not intended to diagnose any medical condition or replace professional medical advice.
Variant
aka: mutation, gene variant
In CMT genetic testing, the mutation found in a gene goes by a softer name, a variant, and how it gets classified can change everything…
What Is a VUS?
The acronym for Variant of unknown or uncertain significance. A variation in a genetic sequence for which the association with disease risk is unclear…
What Is X-Linked Dominant Inheritance?
X-linked dominant inheritance refers to genetic diseases associated with mutations in genes on the X chromosome. A single copy of…
What Is X-Linked Recessive Inheritance?
X-linked recessive inheritance refers to genetic diseases associated with mutations in genes on the X chromosome…
X-Chromosome
aka: chromosome X, sex chromosome
The X-linked forms of CMT ride on the X chromosome, one of the two sex chromosomes, which shapes how they pass through families…
X-Linked
aka: sex-linked
The X-linked forms of CMT sit on the X chromosome, which is why they can affect men and women in different ways…
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