LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.

Maselli, Ricardo A

LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. [electronic resource] - Human genetics Jul 2012 - 1123-35 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1432-1203

10.1007/s00439-011-1132-4 doi


Acetylcholinesterase--metabolism
Adult
Agrin--chemistry
Base Sequence
Cell Line
Codon, Nonsense
Dystroglycans--metabolism
Female
HEK293 Cells
Humans
Male
Models, Molecular
Muscle Fibers, Skeletal--metabolism
Muscle, Skeletal--metabolism
Mutation, Missense
Myasthenic Syndromes, Congenital--genetics
Neuromuscular Junction--metabolism
Pedigree
Receptors, Cholinergic--genetics
Sequence Analysis, DNA