An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.
Lupski
J R
JR
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
D000483:Alleles; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D015321:Gene Rearrangement / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D005838:Genotype; D006801:Humans; D010375:Pedigree; D010641:Phenotype