Severe congenital myasthenic syndrome due to homozygosity of the 1293insG ε-acetylcholine receptor subunit mutation

Annals of Neurology

Volumn 48, Issue 3, 2000, Pages 379-383

  Sieb, J P ^a,d   Kraner, S ^a   Schrank, B ^b   Reitter, B ^c   Goebel, T H H ^c   Tzartos, S J ^e   Steinlein, O K ^a  

^a UNIVERSITY OF BONN   (Germany)

^b DEUTSCHE KLINIK FÜR DIAGNOSTIK   (Germany)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

^d MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

^e HELLENIC PASTEUR INSTITUTE   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; MUTANT PROTEIN; RECEPTOR SUBUNIT;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; EATON LAMBERT SYNDROME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MUSCULAR DYSTROPHY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; FEMALE; HAPLOTYPES; HOMOZYGOTE; HUMANS; MUSCLES; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE; RECEPTORS, CHOLINERGIC;

EID: 0033840421     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200009)48:3<379::AID-ANA14>3.0.CO;2-O     Document Type: Article

References (7)

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4. Characteristics of monoclonal antibodies to denaturated Torpedo and to native calf acetylcholine receptors: Species, subunit and region specifity
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6. Expression of various isoforms of neural cell adhesive molecules and their highly polysialylated counterparts in diseased human muscles