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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...

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Foilsithe in:Hum Mol Genet
Main Authors: O’Connor, Emily, Phan, Vietxuan, Cordts, Isabell, Cairns, George, Hettwer, Stefan, Cox, Daniel, Lochmüller, Hanns, Roos, Andreas
Formáid: Artigo
Teanga:Inglês
Foilsithe: Oxford University Press 2018
Ábhair:
Rochtain Ar Líne: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
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