Charcot-Marie-Tooth(CMT) disease is the most common inherited peripheral neuropathic disorder.CMT is clinically and genetically heterogeneous.To date,27 genes associated with the disease have been cloned.The present study carried out clinical classification according to clinical,electrophysiological and pathological features,conducted inheritance classification according to inheritance patterns,and performed mutation analysis of 13 CMT disease genes(PMP22,CX32,HSPB1,MNF2,MPZ,HSPB8,GDAP1,NFL,EGR2,SIMPLE,RAB7,LMNA,MTMR2) in 57 Chinese probands with CMT.Five cases of AD-CMT1 and 13 cases of sporadic CMT1 were diagnosed as CMT1A;five cases of X-CMT1,one case of X-CMT2 and one case of sporadic CMT1 were diagnosed as CMTX1;four cases of AD-CMT2 were diagnosed as CMT2F;one case of AD-CMT2 and one case of sporadic CMT2 were diagnosed as CMT2A2;one case of AD-CMT2 was diagnosed as CMT2L;one case of AD-CMT2 was diagnosed as CMT2J;one case of AR-CMT1 was diagnosed as CMT4A.Among the 57 CMT probands,seven genotypes were determined among 34 patients,with a detection rate of 59.6%.The results indicated that the clinical classification and inheritance classification are indispensable for selecting potential disease genes for mutation detection,and for efficient molecular diagnosis. Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathic disorder. CMT is clinically and genetically heterogeneous.To date, 27 genes associated with the disease have been cloned.The present study carrying out clinical classification according to clinical, electrophysiological and pathological features, conducted inheritance classification according to inheritance patterns, and performed mutation analysis of 13 CMT disease genes (PMP22, CX32, HSPB1, MNF2, MPZ, HSPB8, GDAP1, NFL, EGR2, SIMPLE, RAB7, LMNA, MTMR2) Chinese probands with CMT.Five cases of AD-CMT1 and 13 cases of sporadic CMT1 were diagnosed as CMT1A; five cases of X-CMT1, one case of X-CMT2 and one case of sporadic CMT1 were diagnosed as CMTX1; four cases of AD One case of AD-CMT2 was diagnosed as CMT2F; one case of AD-CMT2 was diagnosed as CMT2F; one case of AD-CMT2 was diagnosed as CMT2J; one case of AD- -CMT1 was diagnosed as CMT4A.Among the 57 CMT proban ds, seven genotypes were determined among 34 patients, with a detection rate of 59.6%. The results indicated that the clinical classification and inheritance classification are indispensable for potential potential disease genes for mutation detection, and for efficient molecular diagnosis.