Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
Mihaylova
V
V
Molecular Myology Lab, Friedrich-Baur-Institute, Marchioninistr. 17, 81377 Munich, Germany.
Salih
M A M
MA
Mukhtar
M M
MM
Abuzeid
H A
HA
El-Sadig
S M
SM
von der Hagen
M
M
Huebner
A
A
Nürnberg
G
G
Abicht
A
A
Müller
J S
JS
Lochmüller
H
H
Guergueltcheva
V
V
D000293:Adolescent; D001120:Arginine / Q000235:genetics; D002800:Cholinesterase Inhibitors / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D009154:Mutation / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D010641:Phenotype; D011392:Proline / Q000235:genetics; D011729:Pyridostigmine Bromide / Q000627:therapeutic use; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D011950:Receptors, Cholinergic / Q000235:genetics*; D055815:Young Adult
D002800:Cholinesterase Inhibitors; D011950:Receptors, Cholinergic; D001120:Arginine; D011392:Proline; C095714:MUSK protein, human; D020794:Receptor Protein-Tyrosine Kinases; D011729:Pyridostigmine Bromide