Article
Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations.
Journal of the peripheral nervous system : JPNS - 1 Jun 2001
Vital A, Ferrer X, Lagueny A, Vandenberghe A, Latour P, Goizet C, Canron M H, Louiset P, Petry K G, Vital C
Abstract excerpt
There is still confusion as to whether X-linked Charcot-Marie-Tooth disease (CMTX) is primarily an axonal disorder or is primarily demyelinating. Eight symptomatic patients, 7 males and 1 female, from 6 families with identified connexin32 mutations underwent a superficial peroneal nerve biopsy. Quantitative and ultrastructural studies were performed, and histopathological lesions in these 8 patients proved to be...
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