Condition: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY


rs387906803 in LOC107987115;MUSK gene and MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY PMID 20371544 2010 Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

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.

PMID 19949040 2009 Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

PMID 15496425 2004 MUSK, a new target for mutations causing congenital myasthenic syndrome.

rs199476083 in MUSK gene and MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY PMID 19949040 2009 Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

PMID 20371544 2010 Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

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.