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Gene - Charcot-Marie-Tooth Disease | Experts in CMT

Gene

Heredity, Encoded

The gene is considered the basic unit of inheritance. Genes are passed from parents to their children and contain the information needed to specify physical and biological traits. Most genes code for specific proteins, or segments of proteins, which have differing functions within the body. Humans have approximately 20,000 protein-coding genes. In CMT, the disease is caused by mutations in specific genes, and because genes pass from parent to child, CMT is an inheritable disease.

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Jean-Martin Charcot lecturing at the Salpêtrière while comparing anatomical illustrations of a cavovarus Charcot-Marie-Tooth (CMT) foot and a Charcot neuroarthropathy foot, highlighting two different conditions that share the Charcot name.


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When Medicine Lost Its Compass

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Illustrated graphic showing large ‘404’ numerals with people interacting with data screens and servers, alongside text reading ‘CMT Genetic Testing Error 404: Gene Not Found’ and ‘Examining Why Less Than Half of All Who Have Charcot-Marie-Tooth Disease Are Not Able to Obtain Genetic Confirmation of Their Disease.


Error 404: Gene Not Found

CMT genetic testing often fails to identify the cause of the disease, even when comprehensive panels are used. Here, we discuss why this happens, what genetic tests can and cannot do, and why a negative result still matters.