Congenital myasthenic syndromes: Current diagnostic and therapeutic approaches

Neuropediatrics

Volumn 43, Issue 4, 2012, Pages 184-193

  Schara, Ulrike ^a   Della Marina, Adela ^a   Abicht, Angela ^b,c  

^a UNIVERSITY OF DUISBURG ESSEN   (Germany)

^b Medical Genetic Centre   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

congenital myasthenic syndromes; diagnostic work up; genotype; pharmacotherapy; phenotype; therapeutic options

Indexed keywords

3,4 DIAMINOPYRIDINE; ACETAZOLAMIDE; EPHEDRINE; ESTERASE INHIBITOR; FLUOXETINE; QUINIDINE SULFATE; SALBUTAMOL;

BRONCHUS SECRETION; CONGENITAL MYASTHENIC SYNDROME; COUGHING; DIARRHEA; DISEASE COURSE; DRUG BLOOD LEVEL; DRUG DOSE INCREASE; DRUG EFFECT; DRUG HYPERSENSITIVITY; DRUG TOLERABILITY; GASTROINTESTINAL SYMPTOM; GENETIC DISORDER; HEART MUSCLE CONDUCTION DISTURBANCE; HEART PALPITATION; HUMAN; HYPERSALIVATION; HYPERSENSITIVITY REACTION; HYPERTENSION; INSOMNIA; METABOLISM; NERVOUSNESS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SIDE EFFECT;

ACETYLCHOLINESTERASE; ADOLESCENT; BIOPSY; CHILD; CHOLINESTERASE INHIBITORS; DIAGNOSIS, DIFFERENTIAL; EDROPHONIUM; FEMALE; HUMANS; MALE; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NEUROPHYSIOLOGY; SEROLOGY;

EID: 84865058369     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0032-1323850     Document Type: Review

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