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Titolo:
A common mutation (epsilon 1267delG) in congenital myasthenic patients of Gypsy ethnic origin
Autore:
Abicht, A; Stucka, R; Karcagi, V; Herczegfalvi, A; Horvath, R; Mortier, W; Schara, U; Ramaekers, V; Jost, W; Brunner, J; Janssen, G; Seidel, U; Schlotter, B; Muller-Felber, W; Pongratz, D; Rudel, R; Lochmuller, H;
Indirizzi:
Univ Munich, Genzentrum, D-81377 Munich, Germany Univ Munich Munich Germany D-81377 , Genzentrum, D-81377 Munich, Germany Univ Munich, Friedrich Baur Inst, D-81377 Munich, Germany Univ Munich Munich Germany D-81377 ch Baur Inst, D-81377 Munich, Germany Natl Inst Environm hlth, Dept Biochem, Budapest, Hungary Natl Inst Environm hlth Budapest Hungary ept Biochem, Budapest, Hungary Heim Pal Pediat Hosp, Budapest, Hungary Heim Pal Pediat Hosp Budapest Hungary al Pediat Hosp, Budapest, Hungary Ruhr Univ Bochum, Kinderklin, D-4630 Bochum, Germany Ruhr Univ Bochum Bochum Germany D-4630 inderklin, D-4630 Bochum, Germany Ruhr Univ Bochum, Neuromuskulares Lab, D-4630 Bochum, Germany Ruhr Univ Bochum Bochum Germany D-4630 lares Lab, D-4630 Bochum, Germany Rhein Westfal TH Aachen, D-5100 Aachen, Germany Rhein Westfal TH Aachen Aachen Germany D-5100 en, D-5100 Aachen, Germany Univ Homburg, Klin Kinder & Jugendmed, D-6650 Homburg, Germany Univ Homburg Homburg Germany D-6650 & Jugendmed, D-6650 Homburg, Germany Univ Dusseldorf, Kinderklin, D-4000 Dusseldorf, Germany Univ Dusseldorf Dusseldorf Germany D-4000 in, D-4000 Dusseldorf, Germany Univ Berlin, Klinikum Charite, Klin Padiat Schwerpunkt Neurol, Berlin, Germany Univ Berlin Berlin Germany n Padiat Schwerpunkt Neurol, Berlin, Germany Univ Ulm, Allgemeine Physiol Abt, D-7900 Ulm, Germany Univ Ulm Ulm Germany D-7900 Allgemeine Physiol Abt, D-7900 Ulm, Germany
Titolo Testata:
NEUROLOGY
fascicolo: 7, volume: 53, anno: 1999,
pagine: 1564 - 1569
SICI:
0028-3878(19991022)53:7<1564:ACM(1I>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
MUSCLE ACETYLCHOLINE-RECEPTOR; AGONIST BINDING-AFFINITY; EPSILON-SUBUNIT GENE; CELL-LINE TE671; ALPHA-SUBUNIT; BETA-SUBUNIT; NEUROMUSCULAR-JUNCTION; NUCLEOTIDE-SEQUENCE; GAMMA-SUBUNIT; M2 DOMAIN;
Keywords:
congenital myasthenic syndrome; acetylcholine receptor epsilon subunit; neuromuscular junction; neuropediatrics;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
40
Recensione:
Indirizzi per estratti:
Indirizzo: Lochmuller, H Univ Munich, Genzentrum, Feodor Lynen Str 25, D-81377 Munich, Germany Univ Munich Feodor Lynen Str 25 Munich Germany D-81377 many
Citazione:
A. Abicht et al., "A common mutation (epsilon 1267delG) in congenital myasthenic patients of Gypsy ethnic origin", NEUROLOGY, 53(7), 1999, pp. 1564-1569

Abstract

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 muscleis a neurotransmitter-gated ion channel that mediates synaptic transmission at the vertebrate neuromuscular junction. Mutations in its gene may causecongenital myasthenic syndromes. A recently described mutation in exon 12 of the AChR epsilon subunit (epsilon 1267delG) 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 epsilon 1267delG 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 epsilon 1267delG was identified in 13 CMS patients from 11 independent families. All epsilon 1267delG families were of Gypsy or southeastern European origin. Genotype analysis indicated that they derive fr om 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 epsilon 1267delG might; be frequent in European congenital myasthenic syndrome patients of Gypsy ethnic origin. In general, patients (epsilon 1267delG) were characterized by the onset of symptoms in early infancy, the presence of ophthalmoparesis, positive responseto anticholinesterase treatment, and the benign natural course of the disease.

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Documento generato il 07/07/20 alle ore 11:40:00