A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance

Brain

Volumn 135, Issue 4, 2012, Pages 1070-1080

  Webster, Richard ^a   Maxwell, Susan ^a   Spearman, Hayley ^a   Tai, Kaihsu ^b   Beckstein, Oliver ^b   Sansom, Mark ^b   Beeson, David ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

AChR; congenital myasthenic syndrome; deletion mutation; ion channel conductance

Indexed keywords

3,4 DIAMINOPYRIDINE; CHOLINERGIC RECEPTOR; PHENYLALANINE; PYRIDOSTIGMINE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN HYPOXIA; BULBAR PARALYSIS; CASE REPORT; CELL SURFACE; CONGENITAL MYASTHENIC SYNDROME; DNA SEQUENCE; ELECTROMYOGRAPHY; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; HUMAN; HUMAN CELL; HUMAN TISSUE; ION CONDUCTANCE; LIMB WEAKNESS; MISSENSE MUTATION; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; OPHTHALMOPLEGIA; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; RESPIRATORY ARREST; RESPIRATORY FAILURE; THYMECTOMY; WILD TYPE;

EID: 84860153287     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws016     Document Type: Article

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