An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene.
D000328:Adult; D001369:Axons / Q000473:pathology*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D018993:Myelin P0 Protein / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational
D018993:Myelin P0 Protein