De novo PMP2 mutations in families with type 1 Charcot–Marie–Tooth disease

We performed whole exome sequencing on a patient with Charcot–Marie–Tooth disease type 1 and identified a de novo mutation in PMP2, the gene that encodes the myelin P2 protein. This mutation (p.Ile52Thr) was passed from the proband to his one affected son, and segregates with clinical and electrophy...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Brain
Auteurs principaux: Motley, William W., Palaima, Paulius, Yum, Sabrina W., Gonzalez, Michael A., Tao, Feifei, Wanschitz, Julia V., Strickland, Alleene V., Löscher, Wolfgang N., De Vriendt, Els, Koppi, Stefan, Medne, Livija, Janecke, Andreas R., Jordanova, Albena, Zuchner, Stephan, Scherer, Steven S.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2016
Sujets:
Reports
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5022672/
https://ncbi.nlm.nih.gov/pubmed/27009151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aww055
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires