Variant: rs387906803 

    present in Gene: LOC107987115;MUSK
    present in Chromosome: 9
    Position on Chromosome: 110767930
    Alleles of this Variant: C/G

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.