Congenital myasthenic syndrome due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene.
Kraner
S
S
Burgunder
J-M
JM
Rösler
K M
KM
Steinlein
O K
OK
Sieb
J P
JP
D000328:Adult; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics*; D021122:Protein Subunits; D011950:Receptors, Cholinergic / Q000235:genetics*
D018389:Codon, Nonsense; D021122:Protein Subunits; D011950:Receptors, Cholinergic