A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome

Neuromuscular Disorders

Volumn 14, Issue 11, 2004, Pages 744-749

  Müller, Juliane S ^a   Abicht, Angela ^a   Christen, Hans Jürgen ^b   Stucka, Rolf ^a   Schara, Ulrike ^c   Mortier, Wilhelm ^d   Huebner, Angela ^e   Lochmüller, Hanns ^a,b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b Hannover Germany ^*  (Germany)

^c Department of Neuropediatrics   (Germany)

^d RUHR UNIVERSITY BOCHUM   (Germany)

^e DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

Chromosomal deletion; Congenital myasthenic syndrome; Mutation N88K; Neuromuscular junction; Rapsyn

Indexed keywords

CHOLINERGIC RECEPTOR; RAPSYN;

ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CHROMOSOME DELETION; GENE DISRUPTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GERMANY; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; MYASTHENIA GRAVIS; NEUROMUSCULAR SYNAPSE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY FAILURE; SEQUENCE ANALYSIS;

CHILD, PRESCHOOL; CHROMOSOMES; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; MALE; MUSCLE PROTEINS; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR JUNCTION; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECEPTORS, CHOLINERGIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 5144232958     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.06.010     Document Type: Article

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