Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface

Neuromuscular Disorders

Volumn 24, Issue 2, 2014, Pages 143-147

  Webster, Richard ^a   Liu, Wei Wei ^a   Chaouch, Amina ^b   Lochmüller, Hanns ^b   Beeson, David ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b INSTITUTE OF HUMAN GENETICS   (United Kingdom)

Author keywords

Acetylcholine receptor; Congenital myasthenic syndrome; Fast channel; Mutation

Indexed keywords

ACETYLCHOLINE RECEPTOR; CONGENITAL MYASTHENIC SYNDROME; FAST CHANNEL; MUTATION;

ACTION POTENTIALS; BUNGAROTOXINS; ELECTROMYOGRAPHY; HEK293 CELLS; HUMANS; INFANT; IODINE RADIOISOTOPES; MALE; MUSCLES; MUTATION, MISSENSE; MYASTHENIC SYNDROMES, CONGENITAL; PATCH-CLAMP TECHNIQUES; RECEPTORS, NICOTINIC; SEQUENCE ANALYSIS, DNA; TIME FACTORS; TRANSFECTION;

EID: 84893791986     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.10.009     Document Type: Article

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