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 trauma, may induce segmental conduction abnormalities.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1212/01.wnl.0000145707.17402.1d | DOI Listing |
Publication Analysis
Top Keywords
segmental conduction
12
conduction abnormalities
12
myelin thickenings
8
val102/fs null
8
null mutation
8
abnormalities myelin
4
thickenings val102/fs
4
mutation mpz
4
mpz gene
4
gene authors
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!