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A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin
Abicht, A.; Stucka, R.; Karcagi, V. et al.
1999In Neurology, 53 (7), p. 1564-9
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Keywords :
Adolescent; Adult; Child; Child, Preschool; Europe/ethnology; Female; Genotype; Gypsies/genetics; Homozygote; Humans; Infant; Male; Molecular Sequence Data; Mutation/genetics; Myasthenic Syndromes, Congenital/ethnology/genetics/physiopathology; Pedigree; Phenotype; Protein Isoforms/genetics; Receptors, Cholinergic/genetics
Abstract :
[en] OBJECTIVE: Mutation analysis of the acetylcholine receptor (AChR) epsilon subunit gene in patients with sporadic or autosomal recessive congenital myasthenic syndromes (CMS). BACKGROUND: The nicotinic AChR of skeletal muscle is a neurotransmitter-gated ion channel that mediates synaptic transmission at the vertebrate neuromuscular junction. Mutations in its gene may cause congenital myasthenic syndromes. A recently described mutation in exon 12 of the AChR epsilon subunit (epsilon1267delG) disrupts the cytoplasmic loop and the fourth transmembrane region (M4) of the AChR epsilon subunit. METHODS: Forty-three CMS patients from 35 nonrelated families were clinically classified as sporadic cases of CMS (group III according to European Neuromuscular Centre consensus) and were analyzed for epsilon1267delG by PCR amplification and sequence analysis. RESULTS: The authors report the complete genomic sequence and organization of the gene coding for the epsilon subunit of the human AChR (accession number AF105999). Homozygous epsilon1267delG was identified in 13 CMS patients from 11 independent families. All epsilon1267delG families were of Gypsy or southeastern European origin. Genotype analysis indicated that they derive from a common ancestor (founder) causing CMS in the southeastern European Gypsy population. Phenotype analysis revealed a uniform pattern of clinical features including bilateral ptosis and mild to moderate fatigable weakness of ocular, facial, bulbar, and limb muscles. CONCLUSIONS: The mutation epsilon1267delG might be frequent in European congenital myasthenic syndrome patients of Gypsy ethnic origin. In general, patients (epsilon1267delG) were characterized by the onset of symptoms in early infancy, the presence of ophthalmoparesis, positive response to anticholinesterase treatment, and the benign natural course of the disease.
Disciplines :
Pediatrics
Neurology
Author, co-author :
Abicht, A.;  Genzentrum und Friedrich-Baur-Institut, LMU München, Germany
Stucka, R.;  Genzentrum und Friedrich-Baur-Institut, LMU München, Germany
Karcagi, V.;  the Department of Biochemistry, National Institute of Environmental Health, Budapest
Herczegfalvi, A.;  Heim Pal Pediatric Hospital, Budapest, Hungary
Horvath, R.;  Genzentrum und Friedrich-Baur-Institut, LMU München, Germany
Mortier, W.;  Universitätskinderklinik und Neuromuskuläres Labor, Ruhr-Universität Bochum, Germany
Schara, U.;  Universitätskinderklinik und Neuromuskuläres Labor, Ruhr-Universität Bochum, Germany
RAMAEKERS, Vincent ;  he Neuropädiatrie (Dr. Ramaekers), Rheinisch-Westfälische Technische Hochschule Aachen, Germany
Jost, W.;  the Universitätsklinik für Kinder und Jugendmedizin, Homburg/Saar, Germany
Brunner, J.;  the Universitätsklinik für Kinder und Jugendmedizin, Homburg/Saar, Germany
Janssen, G.;  the Neuropädiatrie, Universitätskinderklinik, Heinrich-Heine Universität, Düsseldorf, Germany
Seidel, U.;  the Klinik für Pädiatrie mit Schwerpunkt Neurologie, Universitätsklinikum Charité, Berlin, Germany
Schlotter, B.;  Genzentrum und Friedrich-Baur-Institut, LMU München, Germany
Muller-Felber, W.;  Genzentrum und Friedrich-Baur-Institut, LMU München, Germany
Pongratz, D.;  Genzentrum und Friedrich-Baur-Institut, LMU München, Germany
Rudel, R.;  the Abt. für Allgemeine Physiologie, Universität Ulm, Germany
Lochmuller, H.;  Genzentrum und Friedrich-Baur-Institut, LMU München, Germany
More authors (7 more) Less
Language :
English
Title :
A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin
Publication date :
22 October 1999
Journal title :
Neurology
ISSN :
0028-3878
eISSN :
1526-632X
Publisher :
Lippincott Williams & Wilkins, United States - Maryland
Volume :
53
Issue :
7
Pages :
1564-9
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 07 June 2014

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