Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
Yeung
Wai-Lan
WL
Lam
Ching-Wan
CW
Ng
Pak-Cheung
PC
D000110:Acetylcholinesterase / Q000172:deficiency / Q000235:genetics*; D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D000697:Central Nervous System Stimulants / Q000627:therapeutic use; D003094:Collagen / Q000235:genetics*; D004809:Ephedrine / Q000627:therapeutic use*; D058851:GPI-Linked Proteins / Q000172:deficiency; D006579:Heterozygote; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D053580:Muscle Strength / Q000187:drug effects*; D009154:Mutation; D020294:Myasthenic Syndromes, Congenital / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D009431:Neural Conduction / Q000187:drug effects; D012326:RNA Splicing; D013566:Sympathomimetics / Q000627:therapeutic use*; D013997:Time Factors; D016896:Treatment Outcome
D000697:Central Nervous System Stimulants; D058851:GPI-Linked Proteins; D009124:Muscle Proteins; D013566:Sympathomimetics; D003094:Collagen; C548244:ACHE protein, human; D000110:Acetylcholinesterase; C114027:COLQ protein, human; D004809:Ephedrine