A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin

Neurology

Volumn 53, Issue 7, 1999, Pages 1564-1569

  Abicht, A ^a   Stucka, R ^a   Karcagi, V ^b   Herczegfalvi, A ^c   Horvath R ^a   Mortier, W ^d   Schara, U ^d   Ramaekers, V ^e   Jost, W ^f   Brunner, J ^f   Janssen G ^g   Seidel, U ^h   Schlotter, B ^a   Muller Felber W ^a   Pongratz, D ^a   Rudel R ⁱ   Lochmuller H ^a,j  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH   (Hungary)

^c HEIM PÁL CHILDREN S HOSPITAL   (Hungary)

^d RUHR UNIVERSITY BOCHUM   (Germany)

^e RWTH AACHEN UNIVERSITY   (Germany)

^f SAARLAND UNIVERSITY   (Germany)

^g HEINRICH HEINE UNIVERSITY   (Germany)

^h CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

ⁱ UNIVERSITY OF ULM   (Germany)

^j Genzentrum   (Germany)

more..

Author keywords

Acetylcholine receptor subunit; Congenital myasthenic syndrome; Neuromuscular junction; Neuropediatrics

Indexed keywords

CHOLINERGIC RECEPTOR; RECEPTOR SUBUNIT; ISOPROTEIN;

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GIPSY; HUMAN; MALE; MUSCLE FATIGUE; MUSCLE WEAKNESS; MYASTHENIA; NEUROMUSCULAR SYNAPSE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PTOSIS; RECEPTOR GENE; ADOLESCENT; CHILD; CONGENITAL MYASTHENIC SYNDROME; ETHNOLOGY; EUROPE; GENETICS; GENOTYPE; HOMOZYGOTE; INFANT; MOLECULAR GENETICS; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EUROPE; FEMALE; GENOTYPE; GYPSIES; HOMOZYGOTE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE; PHENOTYPE; PROTEIN ISOFORMS; RECEPTORS, CHOLINERGIC;

EID: 0032589722     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.7.1564     Document Type: Article

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