TY  - GEN
AU  - Maselli,Ricardo A
AU  - Fernandez,Jose M
AU  - Arredondo,Juan
AU  - Navarro,Carmen
AU  - Ngo,Maian
AU  - Beeson,David
AU  - Cagney,Orla
AU  - Williams,D Colette
AU  - Wollmann,Robert L
AU  - Yarov-Yarovoy,Vladimir
AU  - Ferns,Michael J
TI  - LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin
SN  - 1432-1203
PY  - 2012///0824
KW  - Acetylcholinesterase
KW  - metabolism
KW  - Adult
KW  - Agrin
KW  - chemistry
KW  - Base Sequence
KW  - Cell Line
KW  - Codon, Nonsense
KW  - Dystroglycans
KW  - Female
KW  - HEK293 Cells
KW  - Humans
KW  - Male
KW  - Models, Molecular
KW  - Muscle Fibers, Skeletal
KW  - Muscle, Skeletal
KW  - Mutation, Missense
KW  - Myasthenic Syndromes, Congenital
KW  - genetics
KW  - Neuromuscular Junction
KW  - Pedigree
KW  - Receptors, Cholinergic
KW  - Sequence Analysis, DNA
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00439-011-1132-4
ER  -