Congenital myasthenic syndromes: An update

Current Opinion in Neurology

Volumn 26, Issue 5, 2013, Pages 561-568

  Hantaï, Daniel ^a   Nicole, Sophie ^b   Eymard, Bruno ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINESTERASE; AGRIN; CHOLINE ACETYLTRANSFERASE; CHOLINERGIC RECEPTOR; CHOLINESTERASE INHIBITOR; CREATINE KINASE; EPHEDRINE; PYRIDOSTIGMINE; SALBUTAMOL; TRANSFERRIN;

BULBAR PARALYSIS; BURNING SENSATION; CENTRONUCLEAR MYOPATHY; CONGENITAL MYASTHENIC SYNDROME; DISEASE SEVERITY; ELECTROMYOGRAM; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXOME; GAIN OF FUNCTION MUTATION; GENE MUTATION; GLYCOSYLATION; HUMAN; INSOMNIA; ION CONDUCTANCE; ISOELECTRIC FOCUSING; JOINT CONTRACTURE; LEARNING DISORDER; LIMB WEAKNESS; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MUSCLE ACTION POTENTIAL; MUSCLE CRAMP; MYOPATHY; NERVE STIMULATION; NEUROMUSCULAR SYNAPSE; NEUROMUSCULAR TRANSMISSION; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PREGNANCY; REVIEW; TREMOR;

ANIMALS; DIAGNOSIS, DIFFERENTIAL; DISEASE MODELS, ANIMAL; HUMANS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; MYOPATHIES, STRUCTURAL, CONGENITAL; NEUROMUSCULAR JUNCTION;

EID: 84883747611     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0b013e328364dc0f     Document Type: Review

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