Axon damage in CMT due to mutation in myelin protein P0

We describe a family carrying the Thr148Met mutation in the P0 gene. Contra ry to other neuropathies caused by myelin gene defects, no demyeliantion co uld be found in our biopsies. Based on follow up examinations, extensive mo rphometry and immunohistochemical analysis we suggest that the mild hypomye lination documented in our family secondarily causes axonal degeneration an d axonal loss of large and small fibers which predominates the clinical pic ture (C) 2001 Elsevier Science B.V. All fights reserved.