Lanean...

MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion

Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders characterized by compromised function of the neuromuscular junction, manifesting with fatigable muscle weakness. Mutations in MYO9A were previously identified as causative for CMS but the precise pathomechanism remained t...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mol Genet
Egile Nagusiak: O’Connor, Emily, Phan, Vietxuan, Cordts, Isabell, Cairns, George, Hettwer, Stefan, Cox, Daniel, Lochmüller, Hanns, Roos, Andreas
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2018
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5991207/
https://ncbi.nlm.nih.gov/pubmed/29462312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy054
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!