Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure

MUSK encodes the muscle‐specific receptor tyrosine kinase (MuSK), a key component of the agrin‐LRP4‐MuSK‐DOK7 signaling pathway, which is essential for the formation and maintenance of highly specialized synapses between motor neurons and muscle fibers. We report a patient with severe early‐onset co...

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Veröffentlicht in:Hum Mutat
Hauptverfasser: Rodríguez Cruz, Pedro M., Cossins, Judith, Cheung, Jonathan, Maxwell, Susan, Jayawant, Sandeep, Herbst, Ruth, Waithe, Dominic, Kornev, Alexandr P., Palace, Jacqueline, Beeson, David
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2019
Schlagworte:
Research Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7028094/
https://ncbi.nlm.nih.gov/pubmed/31765060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23949
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