Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease

摘要

A description of an isolated CMTIA-REP sequence and DNA probes to the sequence. Methods for the use of such sequences and probes to detect peripheral neuropathies. A method for detecting Charcot-Marie- Tooth disease type 1 by measuring the presence or absence of a DNA duplication in a gene locus associated with the CMTIA-REP sequence. A method for detecting Hereditary Neuropathy with Liability to Pressure Palsies by measuring the presence or absence of a DNA deletion in a gene locus associated with the CMTIA-REP sequence.