Axon damage in CMT due to mutation in myelin protein P0.
SourceNeuromuscular Disorders, 11, 8, (2001), pp. 753--6
Article / Letter to editor
Display more detailsDisplay less details
SubjectNeuromuscular and neurometabolic disorders; Neuromusculaire en neurometabole aandoeningen
We describe a family carrying the Thr148Met mutation in the P0 gene. Contrary to other neuropathies caused by myelin gene defects, no demyeliantion could be found in our biopsies. Based on follow up examinations, extensive morphometry and immunohistochemical analysis we suggest that the mild hypomyelination documented in our family secondarily causes axonal degeneration and axonal loss of large and small fibers which predominates the clinical picture.
Upload full text