Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited motor and 
sensory neuropathy. The autosomal dominant axonal form of the disease (CMT2) is 
currently subdivided into seven types based on genetic localization. These are 
CMT2A (1p35-p36), CMT2B (3q13-q22), CMT2C (unknown), CMT2D (7p14), CMT2E (8p21), 
HMNSP (3q13.1), and CMT2F (7q11-q21). Two loci have thus far been identified for 
autosomal recessive CMT2; ARCMT2A (1q21.1-q21.3) and ARCMT2B (19q13.3). 
Mutations in four genes (connexin 32, myelin protein zero, neurofilament-light, 
and kinesin) have been associated with the CMT2 phenotype. We identified a novel 
neurofilament-light missense mutation (C64T) that causes the disease in a large 
Slovenian CMT2 family. This novel mutation shows complete co-segregation with 
the dominantly inherited CMT2 phenotype in our family.