Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. We performed linkage analysis, whole-exome and whole-genome sequencing to determine the und...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: Cossins, Judith, Belaya, Katsiaryna, Hicks, Debbie, Salih, Mustafa A., Finlayson, Sarah, Carboni, Nicola, Liu, Wei Wei, Maxwell, Susan, Zoltowska, Katarzyna, Farsani, Golara Torabi, Laval, Steven, Seidhamed, Mohammed Zain, Donnelly, Peter, Bentley, David, McGowan, Simon J., Müller, Juliane, Palace, Jacqueline, Lochmüller, Hanns, Beeson, David
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2013
Onderwerpen:
Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3580273/
https://ncbi.nlm.nih.gov/pubmed/23404334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awt010
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items