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A receptor-like tyrosine kinase apparently restricted to skeletal muscle in its expression and localized at the neuromuscular junction. In experimental systems, MuSK-*dishevelled interaction regulates the agrin-stimulated acetylcholine receptor clustering that is important for formation of the neuromuscular junction. A missense mutation that altered expression of MuSK, but not its catalytic activity, led to decreased agrin-dependent acetylcholine receptor aggregation in a patient with congenital myasthenic syndrome.

Subjects: Medicine and Health.

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