Choline acetyltransferase mutations causing congenital myasthenic syndrome: molecular findings and genotype-phenotype correlations

Choline acetyltransferase catalyzes the synthesis of acetylcholine at cholinergic nerves. Mutations in human CHAT cause a congenital myasthenic syndrome (CMS) due to impaired synthesis of ACh; this severe variant of the disease is frequently associated with unexpected episodes of potentially fatal a...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Hum Mutat
Hauptverfasser: Arredondo, Juan, Lara, Marian, Gospe, Sídney M., Mazia, Claudio G., Vaccarezza, Maria, Garcia-Erro, Marcela, Bowe, Constance, Chang, Celia, Mezei, Michelle, Maselli, Ricardo A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2015
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4537391/
https://ncbi.nlm.nih.gov/pubmed/26080897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22823
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge