Distinct phenotypes of congenital acetylcholine receptor deficiency.

Journal article

We contrast the phenotypes associated with hereditary acetylcholine receptor deficiency arising from mutations in either the acetylcholine receptor epsilon subunit or the endplate acetylcholine receptor clustering protein rapsyn. Mutational screening was performed by amplification of promoter and coding regions by PCR and direct DNA sequencing. We identified mutations in 37 acetylcholine receptor deficiency patients; 18 had acetylcholine receptor-epsilon mutations, 19 had rapsyn mutations. Mu...

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Authors: Burke, G; Cossins, J; Maxwell, S; Robb, S; Nicolle, M

• Publication status: Published
• Journal: Neuromuscular disorders : NMD
• Volume: 14
• Issue: 6
• Pages: 356-364
• Publication date: 2004-06-01
• DOI: 10.1016/j.nmd.2004.03.005
• EISSN: 1873-2364
• ISSN: 0960-8966
• Language: English
• Keywords: Ephedrine; Humans; Cholinesterase Inhibitors; Phenotype; Receptors, Cholinergic; Electric Stimulation; Muscle Proteins; Drug Therapy, Combination; Adult; Child; Male; Transfection; Adolescent; RNA, Messenger; Protein Subunits; Fluorescent Antibody Technique; 4-Aminopyridine; Muscles; Severity of Illness Index; Potassium Channel Blockers; Evoked Potentials, Motor; Electrophysiology; Myasthenic Syndromes, Congenital; Sympathomimetics; Embryo, Mammalian; Middle Aged; Female; Reverse Transcriptase Polymerase Chain Reaction; Electromyography; Sequence Analysis, DNA; Cell Line; Aged; DNA Mutational Analysis; Mutation; Child, Preschool; Pyridostigmine Bromide; Kidney