CareLit · DOI-Nachweis · Aktuelle Neurologie
A novel missense mutation of the PMP22 gene causing HNPP without generalized electrophysiologic abnormalities
DOI 10.1055/s-2004-833310
Bibliografische Angaben
Nachweis in CareLit
Autor:innenM Boentert, F Stögbauer, P Young
ZeitschriftAktuelle Neurologie
Ausgabe09/2004
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
The peripheral myelin protein 22 (PMP22) is abundantly expressed by Schwann cells of peripheral nerves and plays a major role in the formation and maintenance of compact myelin. Mutations in the PMP22 gene on chromosome 17p11.2 account for Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP). Both syndromes follow an autosomal dominant inheritance. A duplica…
Zitieren
Zitierempfehlung
M Boentert, F Stögbauer, P Young (2004) A novel missense mutation of the PMP22 gene causing HNPP without generalized electrophysiologic abnormalities. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2004-833310
Mit CareLit weiterarbeiten