Article
Peripheral neuropathies caused by mutations in the myelin protein zero.
Journal of the neurological sciences - 15 Mar 2006
Shy Michael E
Abstract excerpt
Charcot-Marie-Tooth disease type 1B (CMT1B) is caused by mutations in the major PNS myelin protein myelin protein zero (MPZ). MPZ is a member of the immunoglobulin supergene family and functions as an adhesion molecule helping to mediate compaction of PNS myelin. Mutations in MPZ appear to either disrupt myelination during development, leading to severe early onset neuropathies, or to disrupt axo-glial...
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