Article
Axon damage in CMT due to mutation in myelin protein P0.
Neuromuscular disorders : NMD - 1 Nov 2001
Hanemann C O, Gabreëls-Festen A A, De Jonghe P
Abstract excerpt
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...
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