Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.

doi:10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A

Back to search

Article

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.

Human mutation - 1 Jan 1999

Nelis E, Haites N, Van Broeckhoven C

Abstract excerpt

The peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ, P0), and the connexin 32 gene (Cx32, GJB1) code for membrane proteins expressed in Schwann cells of the peripheral nervous system (PNS). The early growth response 2 gene (EGR2) encodes a transcription factor that ma...

Topics

Charcot-Marie-Tooth Disease
Connexins
Genotype
Hereditary Sensory and Motor Neuropathy
Humans
Immediate-Early Proteins
Myelin P0 Protein
Myelin Proteins
Phenotype
Gap Junction beta-1 Protein

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.