Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes

Annals of the New York Academy of Sciences

Volumn 998, Issue , 2003, Pages 114-124

  Beeson, David ^a   Webster, Richard ^a   Ealing, John ^a   Croxen, Rebecca ^a   Brownlow, Sharon ^a   Brydson, Martin ^a   Newsom Davis, John ^a   Slater, Clarke ^b   Hatton, Chris ^c   Shelley, Chris ^c   Colquhoun, David ^c   Vincent, Angela ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Acetylcholine receptor (AChR); AChR deficiency; Congenital myasthenic syndromes (CMS); Fast channel; Green fluorescent protein; In situ hybridization; Mutations; Slow channel

Indexed keywords

CHOLINERGIC RECEPTOR; LEUCINE; PROLINE; RAPSYN;

ALPHA CHAIN; AMINO ACID SUBSTITUTION; AMPLICON; AUTOSOMAL RECESSIVE INHERITANCE; CONFERENCE PAPER; DISEASE SEVERITY; DNA SEQUENCE; ELECTROPHYSIOLOGY; EXON; GENE IDENTIFICATION; GENE MUTATION; GENE SEGREGATION; GENE STRUCTURE; GENETIC CODE; GENETIC SCREENING; HUMAN; MOLECULAR MECHANICS; MUSCLE BIOPSY; MYASTHENIA GRAVIS; NEUROMUSCULAR SYNAPSE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0141504328     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1196/annals.1254.013     Document Type: Conference Paper

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