New Mutation in PMP22 Gene Linked to CMT3 in Chinese Patient

New Mutation in PMP22 Gene Linked to CMT3 in Chinese Patient

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New Mutation in PMP22 Gene Linked to CMT3 in Chinese Patient

Scientists have pinpointed a new genetic mutation in the PMP22 gene as the cause of Charcot-Marie-Tooth disease type 3 (CMT3) in a 26-year-old Chinese man. Titled “A novel PMP22 insertion mutation causing Charcot–Marie–Tooth disease type 3,” the case report was published in the journal Medicine. The PMP22 gene is one of the known CMT-causing genes. It contains instructions to make a protein with a role in the maintenance and development of myelin, the fatty layer that…

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