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

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

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Article

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

Current opinion in genetics & development - 1 Jun 1993

Patel P I

Abstract excerpt

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 duplic...

Topics

Animals
Charcot-Marie-Tooth Disease
Humans
Mutation
Myelin Proteins

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