A peripheral myelin protein, PMP-22, which is present predominantly in the peripheral nervous system and nucleic acids sequences which encode the protein. Also included are oligonucleotide probes and primers derived from such sequences, and methods for the use of such sequences, probes and primers in detecting peripheral neuropathies. A mehtod for detecting Charcot-Marie-Tooth type 1 (CMT1A) disease by measuring the presence or absence of a DNA duplication in a gene locus associated with the CMT disease. Also disclosed are sequences contained within the CMT1A duplication region for use as probes and primers.
MOLECULAR DIAGNOSIS OF AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE