Inherited disorders of the peripheral nervous system (IPN) frequently referred to as Charcot-Marie-Tooth (CMT) disease, affect 1 in 2500 individuals and thus represent one of the most common neuromuscular disorders. Clinically, IPN are characterized by progressive weakness and atrophy of the distal limb muscles, sensory abnormalities and absent deep tendon reflexes. IPN show extensive genetic heterogeneity with disease-causing mutations in more than 35 genes with a wide range of bio logical functions. Over the last eight years our research team has conducted extensive clinical, molecular genetic and phenotype-genotype correlation studies in Bulgarian patients and families with IPN. We have established a clinical register and DNA bank with more than 250 families. Our molecular genetic analyses have identified more than 10 novel mutations in 9 disease-causing genes. We have reported important genotype-phenotype correlation data for mutations in LITAF gene in CMT1C, NEFL gene in CMT1F, BSCL2 gene in Silver syndrome and MFN2 gene in CMT6. In an international collaboration the team was involved in mapping of genetic loci and contributed to the identification of three IPN genes (GARS, CTDP1, HSP22). We identified the Dominant Intermediate CMT type C (DI-CMTC) and provided guidelines for clinical diagnosis of this novel disease type. In a genome wide scan we mapped the disease locus to 1p34-p35 and subsequently identified pathogenic mutations in the YARS gene. Our research team is experi enced in extensive fieldwork and performs community-based carrier testing programs for private CMT mutations among the Roma population.