Congenital myasthenic syndromes in 2012

Current Neurology and Neuroscience Reports

Volumn 12, Issue 1, 2012, Pages 92-101

  Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

Author keywords

2 laminin; Acetylcholine receptor (AChR); Agrin; Choline acetyltransferase; ColQ; Congenital myasthenic syndrome; Dok 7; EMG; Escobar syndrome; GFPT1; MuSK; Neuromuscular junction; Rapsyn

Indexed keywords

3,4 DIAMINOPYRIDINE; ACETYLCHOLINESTERASE; AGRIN; AMPHIPHYSIN; CHOLINE ACETYLTRANSFERASE; CHOLINERGIC RECEPTOR; CHOLINESTERASE INHIBITOR; DYNAMIN II; EPHEDRINE; FLUOXETINE; GLUTAMINE FRUCTOSE 6 PHOSPHATE AMINOTRANSFERASE; HEXOSAMINE; LAMININ; LAMININ BETA2; MUSCLE SPECIFIC KINASE; PHOSPHOTRANSFERASE; PLECTIN; PROTEIN TYROSINE KINASE; PROTEIN TYROSINE KINASE 7; PYRIDOSTIGMINE; QUINIDINE; QUININE; RAPSYN; RYANODINE RECEPTOR; SALBUTAMOL; SODIUM CHANNEL; SODIUM CHANNEL NAV1.4; UNCLASSIFIED DRUG;

BASEMENT MEMBRANE; BIOCHEMISTRY; CLINICAL EXAMINATION; CONGENITAL MYASTHENIC SYNDROME; DISEASE CLASSIFICATION; ELECTROMYOGRAPHY; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; MOLECULAR MECHANICS; MORPHOLOGY; NERVE ENDING; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NEUROMUSCULAR TRANSMISSION; NONHUMAN; PROTEIN EXPRESSION; REVIEW; SEQUENCE ANALYSIS; SYNAPSE;

ACETYLCHOLINESTERASE; HUMANS; ION CHANNELS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR JUNCTION; RECEPTORS, CHOLINERGIC; SYNAPTIC TRANSMISSION;

EID: 84857328859     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-011-0234-7     Document Type: Review

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