Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations

MeSH terms

• Acetylcholinesterase / deficiency
• Acetylcholinesterase / genetics*
• Adolescent
• Asian People / genetics*
• Central Nervous System Stimulants / therapeutic use
• Collagen / genetics*
• Ephedrine / therapeutic use*
• GPI-Linked Proteins / deficiency
• Heterozygote
• Humans
• Male
• Muscle Proteins / genetics*
• Muscle Strength / drug effects*
• Mutation*
• Myasthenic Syndromes, Congenital / drug therapy*
• Myasthenic Syndromes, Congenital / genetics*
• Myasthenic Syndromes, Congenital / physiopathology
• Neural Conduction / drug effects
• RNA Splicing
• Sympathomimetics / therapeutic use*
• Time Factors
• Treatment Outcome