Congenital myasthenic syndromes: Pathogenesis, diagnosis, and treatment

The Lancet Neurology

Volumn 14, Issue 4, 2015, Pages 420-434

  Engel, Andrew G ^a   Shen, Xin Ming ^a   Selcen, Duygu ^a   Sine, Steven M ^b  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIAMINOPYRIDINE; ACETYLCHOLINE; ACETYLCHOLINESTERASE; AGRIN; CHOLINE ACETYLTRANSFERASE; CHOLINERGIC RECEPTOR; CHOLINERGIC RECEPTOR STIMULATING AGENT; DPAGT1 PROTEIN; EPHEDRINE; FLUOXETINE; GLUTAMINE FRUCTOSE 6 PHOSPHATE AMINOTRANSFERASE; LAMININ; LAMININ BETA2; MITOCHONDRIAL PROTEIN; NEOSTIGMINE; NICOTINIC RECEPTOR; PLECTIN; PYRIDOSTIGMINE; QUINIDINE; QUININE; RAPSYN; SALBUTAMOL; SLC25A1 PROTEIN; SNAP25B PROTEIN; SNARE PROTEIN; SODIUM CHANNEL; SYNAPTOTAGMIN II; UNCLASSIFIED DRUG; ADRENERGIC RECEPTOR STIMULATING AGENT; COLLAGEN; COLQ PROTEIN, HUMAN; MUSCLE PROTEIN; SNAP25 PROTEIN, HUMAN; SYNAPTOSOMAL ASSOCIATED PROTEIN 25;

ACETYCHOLINESTERASE DEFICIENCY; ACETYLCHOLINE RECEPTOR DEFICIENCY; CATALYSIS; CHOLINE ACETYLTRANSFERASE DEFICIENCY; CONGENITAL MYASTHENIC SYNDROME; GENE MUTATION; GLYCOSYLATION; HUMAN; HYPOTONIA CYSTINURIA SYNDROME; LAMININ BETA2 DEFICIENCY; PLECTIN DEFICIENCY; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; RAPSYN DEFICIENCY; REVIEW; SNAP25B DEFICIENCY; SYNAPTOTAGMIN II DEFICIENCY; WEAKNESS; DEFICIENCY; DNA SEQUENCE; EXOME; GENETICS; METABOLISM; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR SYNAPSE; PATHOPHYSIOLOGY;

ACETYLCHOLINESTERASE; ADRENERGIC AGONISTS; CHOLINE O-ACETYLTRANSFERASE; CHOLINERGIC AGONISTS; COLLAGEN; EXOME; HUMANS; LAMININ; MUSCLE PROTEINS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR JUNCTION; RECEPTORS, CHOLINERGIC; SEQUENCE ANALYSIS, DNA; SYNAPTOSOMAL-ASSOCIATED PROTEIN 25; SYNAPTOTAGMIN II;

EID: 84926336826     PISSN: 14744422     EISSN: 14744465     Source Type: Journal    
DOI: 10.1016/S1474-4422(14)70201-7     Document Type: Review

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