Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
Maselli
R  A
R
Dris
H
H
Schnier
J
J
Cockrell
J  L
J
Wollmann
R  L
R
D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002460:Cell Line; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D049452:Green Fluorescent Proteins / Q000235:genetics / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011978:Receptors, Nicotinic / Q000235:genetics / Q000378:metabolism; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D014162:Transfection
D009124:Muscle Proteins; D011978:Receptors, Nicotinic; D011993:Recombinant Fusion Proteins; C051609:peripheral membrane protein 43K; D049452:Green Fluorescent Proteins