title: Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
authors: Molecular Myology Lab, Friedrich-Baur-Institute, Marchioninistr. 17, 81377 Munich, Germany.
authors: V
authors: V
authors: Mihaylova
authors: M A M
authors: MA
authors: Salih
authors: M M
authors: MM
authors: Mukhtar
authors: H A
authors: HA
authors: Abuzeid
authors: S M
authors: SM
authors: El-Sadig
authors: M
authors: M
authors: von der Hagen
authors: A
authors: A
authors: Huebner
authors: G
authors: G
authors: Nürnberg
authors: A
authors: A
authors: Abicht
authors: J S
authors: JS
authors: Müller
authors: H
authors: H
authors: Lochmüller
authors: V
authors: V
authors: Guergueltcheva
mesh_terms: 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
chemical_list: D002800:Cholinesterase Inhibitors; D011950:Receptors, Cholinergic; D001120:Arginine; D011392:Proline; C095714:MUSK protein, human; D020794:Receptor Protein-Tyrosine Kinases; D011729:Pyridostigmine Bromide