Article
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
Human mutation - 1 Mar 2020
Rodríguez Cruz Pedro M, Cossins Judith, Cheung Jonathan, Maxwell Susan, Jayawant Sandeep, Herbst Ruth, Waithe Dominic, Kornev Alexandr P, Palace Jacqueline, Beeson David
Abstract excerpt
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 congenital myasthenic syndrome and two novel missense mutations in MUSK (p.C317R and p.A617V). Functional studies show...
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