Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene.
Neurology
; 63(11): 2180-3, 2004 Dec 14.
Article
en En
| MEDLINE
| ID: mdl-15596778
ABSTRACT
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Parestesia
/
Atrofia Muscular
/
Reflejo Anormal
/
Mutación del Sistema de Lectura
/
Codón sin Sentido
/
Proteína P0 de la Mielina
/
Trastornos Neurológicos de la Marcha
/
Vaina de Mielina
Límite:
Adult
/
Aged
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Año:
2004
Tipo del documento:
Article
País de afiliación:
Italia