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Titolo:
Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci
Autore:
Li, FY; Szobor, A; Croxen, R; Anselmo, V; Yuan, QP; Lindblad, K; Schalling, M; Komoly, S; Beeson, D; Larsson, C;
Indirizzi:
Karolinska Hosp CMM L8 01, Dept Mol Med, S-17176 Stockholm, Sweden Karolinska Hosp CMM L8 01 Stockholm Sweden S-17176 176 Stockholm, Sweden Semmelweis Univ Med, Sch Affiliate, Jahn Ferenc Teaching Hosp, Dept Neurol, H-1204 Budapest, Hungary Semmelweis Univ Med Budapest Hungary H-1204 ol, H-1204 Budapest, Hungary John Radcliffe Hosp, Inst Mol Med, Neurosci Grp, Oxford OX3 9DS, England John Radcliffe Hosp Oxford England OX3 9DS Grp, Oxford OX3 9DS, England
Titolo Testata:
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
fascicolo: 3, volume: 7, anno: 2001,
pagine: 289 - 294
SICI:
1107-3756(200103)7:3<289:DIFMGA>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
MUSCLE ACETYLCHOLINE-RECEPTOR; BETA-SUBUNIT GENE; ALPHA-SUBUNIT; ASSOCIATION; DISEASE; REPEAT; IDENTIFICATION; EXPANSION; SUSCEPTIBILITY; POLYMORPHISMS;
Keywords:
myasthenia gravis; linkage analysis; autoimmunity; familial disease;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
43
Recensione:
Indirizzi per estratti:
Indirizzo: Li, FY Karolinska Hosp CMM L8 01, Dept Mol Med, S-17176 Stockholm, Sweden Karolinska Hosp CMM L8 01 Stockholm Sweden S-17176 ckholm, Sweden
Citazione:
F.Y. Li et al., "Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci", INT J MOL M, 7(3), 2001, pp. 289-294

Abstract

Myasthenia gravis (MG) is a sporadic autoimmune disorder affecting neuromuscular transmission. Very rarely autoimmune myasthenia. gravis may be inherited within a family. We present here the genetic analysis of a Hungarian family where nine members from two generations are affected by myasthenia gravis. Genetic characterisation of this unique Hungarian family using linkage analysis and mutation screening excludes the involvement of defined candidate gene loci. These findings point to familial MG as a separate genetic entity. Identification of the underlying genetic defect in this family may greatly enhance our understanding of the pathogenesis of myasthenia gravis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 02:10:23