PMID 15496425 2004 MUSK, a new target for mutations causing congenital myasthenic syndrome.
PMID 24183479 2014 Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
PMID 23326516 2013 A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.