The present invention relates to defects in periaxin (PRX) associated with
myelinopathies, including Charcot-Marie-Tooth syndrome and/or
Dejerine-Sottas syndrome. Unrelated individuals having a myelinopathy
from Dejerine-Sottas syndrome have recessive PRX mutations. The PRX locus
maps to a region associated with a severe autosomal recessive
demyelinating neuropathy and is also syntenic to the Prx location on
murine chromosome 7.