Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies.
Engel
A G
AG
Muscle Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA.
Ohno
K
K
Milone
M
M
Sine
S M
SM
D005071:Evoked Potentials; D016368:Frameshift Mutation; D005808:Genes, Recessive; D006801:Humans; D008958:Models, Molecular; D009045:Motor Endplate / Q000502:physiology / Q000503:physiopathology; D009154:Mutation; D009157:Myasthenia Gravis / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology*; D018408:Patch-Clamp Techniques; D017354:Point Mutation; D011487:Protein Conformation; D011950:Receptors, Cholinergic / Q000737:chemistry / Q000235:genetics*; D013577:Syndrome
D011950:Receptors, Cholinergic