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CMT- HNPP difference (clarification)

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CMT is associated with a * duplication * on chromosome 17p11.2-12. This

chromosome contains an important myelin gene, peripheral myelin protein-22 gene

(PMP22). CMT has an * extra copy * of PMP22.

HNPP is caused by a * deletion (loss of a copy) * of PMP 22 on the same

chromosome where CMT has a duplication.

Two copies of a gene are usually needed for normal function.

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