Fig. 4
From: Charcot-Marie-Tooth Disease: Lessons in Genetic Mechanisms
Myelin gene mutations and myelinopathies. Protein structure models for myelin gene products associated with myelinopathies. The upper left portion of the figure shows the symbols for the specified myelinopathy phenotypes while the upper right gives the key to the mutation types. Note that the PMP22 mutations are located in the predicted transmembrane domain whereas PO mutations are predominantly in the extracellular domain. The Cx32 mutations associated with X-linked CMT are located throughout the molecule.