CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn

Brain

Volumn 129, Issue 10, 2006, Pages 2784-2793

  Müller, Juliane S ^a   Baumeister, Sarah K ^a   Schara, Ulrike ^b   Cossins, Judy ^d   Krause, Sabine ^a   Von Der Hagen, Maja ^c   Huebner, Angela ^c   Webster, Richard ^d   Beeson, David ^d   Lochmüller, Hanns ^a   Abicht, Angela ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b Department of Neuropediatrics   (Germany)

^c DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

AChR delta subunit mutation; Chromosomal deletion; Congenital myasthenic syndrome; Neuromuscular junction; Rapsyn

Indexed keywords

CAMSILON; CHOLINERGIC RECEPTOR; CHOLINESTERASE INHIBITOR; EDROPHONIUM; MUTANT PROTEIN; PYRIDOSTIGMINE; RAPSYN; RECEPTOR SUBUNIT;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL STRAIN HEK293; CELLULAR DISTRIBUTION; CHRND GENE; CONGENITAL MYASTHENIC SYNDROME; DISEASE SEVERITY; FEEDING DISORDER; GENE; GENE DELETION; GENE DISRUPTION; GENE MUTATION; GERMANY; HETEROZYGOSITY; HUMAN; INFECTION; MALE; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NERVE ENDING; NEUROMUSCULAR SYNAPSE; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PTOSIS; RESPIRATORY FAILURE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SEQUENCE ANALYSIS; WILD TYPE;

EID: 33749459915     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl188     Document Type: Article

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