Article
Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene.
Neurology - 14 Dec 2004
De Angelis M V, Di Muzio A, Capasso M, Angiari C, Cavallaro T, Fabrizi G M, Rizzuto N, Uncini A
Abstract excerpt
The authors report in patients with Val102/fs null mutation a possibly age dependent variability of clinical and electrophysiologic phenotype, segmental conduction abnormalities mainly in ulnar nerves at the elbow, and excessive myelin foldings and thickenings. The authors hypothesize that myelin thickenings at the paranodal region, in concurrence with compression at usual entrapment sites or minor repetitive...
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