Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges

Journal of Neuroimmunology

Volumn 201-202, Issue C, 2008, Pages 6-12

  Kinali, M ^a   Beeson, D ^b   Pitt, M C ^c   Jungbluth, H ^d   Simonds, A K ^e   Aloysius, A ^a,f   Cockerill, H ^d   Davis, T ^a,f   Palace, J ^g   Manzur, A Y ^a   Jimenez Mallebrera, C ^a   Sewry, C ^a,h   Muntoni, F ^a   Robb, S A ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^e ROYAL BROMPTON HOSPITAL   (United Kingdom)

^f HAMMERSMITH HOSPITAL   (United Kingdom)

^g JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^h ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

Author keywords

Congenital Myasthenic Syndrome; Diagnosis; Management

Indexed keywords

3,4 DIAMINOPYRIDINE; ACETYLCHOLINESTERASE; CHOLINE ACETYLTRANSFERASE; CHOLINERGIC NICOTINIC RECEPTOR ALPHA 1; DOWNSTREAM OF TYROSINE KINASE 7; EPHEDRINE; FLUOXETINE; NICOTINIC RECEPTOR; PHENOBARBITAL; PROTEIN COLQ; PROTEIN TYROSINE KINASE; PYRIDOSTIGMINE; RAPSYN; SALBUTAMOL; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; ARTIFICIAL VENTILATION; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CONGENITAL MYASTHENIC SYNDROME; CONTRACTURE; CONTROLLED STUDY; DIAGNOSTIC TEST; DRUG WITHDRAWAL; ELECTROMYOGRAM; FEMALE; GASTROSTOMY; HUMAN; HUMAN TISSUE; INFANT; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; METABOLIC DISORDER; MONOTHERAPY; MUSCLE HYPOTONIA; MYASTHENIA GRAVIS; MYOPATHY; NEUROMUSCULAR JUNCTION DISORDER; NEUROMUSCULAR TRANSMISSION; PRIORITY JOURNAL; PTOSIS; RESPIRATORY FAILURE; SEIZURE; STRIDOR; SUICIDAL IDEATION;

ADOLESCENT; AGE OF ONSET; BIOPSY; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; RESPIRATION; RETROSPECTIVE STUDIES;

EID: 51649123667     PISSN: 01655728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jneuroim.2008.06.026     Document Type: Article

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