Article
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
Neurology - 1 Sept 1996
Gabreëls-Festen A A, Hoogendijk J E, Meijerink P H, Gabreëls F J, Bolhuis P A, van Beersum S, Kulkens T, Nelis E, Jennekens F G, de Visser M, van Engelen B G, Van Broeckhoven C, Mariman E C
Abstract excerpt
In seven unrelated patients with a demyelinating motor and sensory neuropathy, we found mutations in exons 2 and 3 of the P0 gene. Morphologic examination of sural nerve biopsy specimens showed a demyelinating process with onion bulb formation in all cases. In four patients, ultrastructural examination demonstrated uncompacted myelin in 23 to 68% of the myelinated fibers, which is in agreement with the widely...
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