Читать книгу Genetic Analysis of Complex Disease - Группа авторов - Страница 53

Charcot‐Marie‐Tooth (CMT) Type 1A and hereditary liability to pressure palsies (HNPP) are caused by an abnormal 1.4 megabase CNV on 17p12. CMT is a peripheral neuropathy most commonly caused by a duplication of PMP22, while a deletion of this same gene will result in the phenotypically distinct condition, HNPP. There are numerous types of CMT, many of which are caused by mutations at many different loci, a scenario described as locus heterogeneity.