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It is caused by a mutation in a gene called peripheral myelin protein 22 (PMP22) located on chromosome 17.

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13y ago
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5mo ago

CMT1A is caused by a duplication of the PMP22 gene on chromosome 17. The extra copies of this gene lead to overproduction of the myelin protein, causing the symptoms of Charcot-Marie-Tooth disease type 1A.

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Q: What gene is responsible for CMT1A?
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