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Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene

Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene

Current Opinion in Genetics and Development 3(3): 438-444

Charcot-Marie-Tooth disease type 1A, the most common inherited peripheral neuropathy, is associated with a submicroscopic DNA duplication of 1.5 Mb that can arise de novo, and which is flanked by a > 17 kb mosaic repeat. The PMP22 gene, encoding a peripheral myelin protein, maps within the duplication. In a subset of Charcot-Marie-Tooth patients, point mutations can occur within the gene. Thus, the alternative mechanisms of overexpression of PMP22 and structural alterations in the protein encoded can cause the disease phenotype.

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Accession: 045495740

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PMID: 8353419

DOI: 10.1016/0959-437x(93)90118-9

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