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Titolo:
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
Autore:
di Barletta, MR; Ricci, E; Galluzzi, G; Tonali, P; Mora, M; Morandi, L; Romorini, A; Voit, T; Orstavik, KH; Merlini, L; Trevisan, C; Biancalana, V; Housmanowa-Petrusewicz, I; Bione, S; Ricotti, R; Schwartz, K; Bonne, G; Toniolo, D;
Indirizzi:
CNR, Inst Genet Biochem & Evolut, I-27100 Pavia, Italy CNR Pavia Italy I-27100 nst Genet Biochem & Evolut, I-27100 Pavia, Italy Catholic Univ, Inst Neurol, Rome, Italy Catholic Univ Rome ItalyCatholic Univ, Inst Neurol, Rome, Italy UILDM, Ctr Neuromuscular Dis, Rome Sect, Rome, Italy UILDM Rome ItalyUILDM, Ctr Neuromuscular Dis, Rome Sect, Rome, Italy CNR, Inst Cell Biol, I-27100 Pavia, Italy CNR Pavia Italy I-27100CNR, Inst Cell Biol, I-27100 Pavia, Italy Ist Neurol Besta, Milan, Italy Ist Neurol Besta Milan ItalyIst Neurol Besta, Milan, Italy Legnano Hosp, Legnano, Italy Legnano Hosp Legnano ItalyLegnano Hosp, Legnano, Italy Univ Essen, Dept Pediat, Essen, Germany Univ Essen Essen GermanyUniv Essen, Dept Pediat, Essen, Germany Ulleval Hosp, Dept Med Genet, Oslo, Norway Ulleval Hosp Oslo NorwayUlleval Hosp, Dept Med Genet, Oslo, Norway Rizzoli Inst, Bologna, Italy Rizzoli Inst Bologna ItalyRizzoli Inst, Bologna, Italy Univ Padua, Dept Clin Neurol, Padua, Italy Univ Padua Padua ItalyUniv Padua, Dept Clin Neurol, Padua, Italy Polish Acad Sci, Med Res Ctr, Warsaw, Poland Polish Acad Sci Warsaw Poland ish Acad Sci, Med Res Ctr, Warsaw, Poland GH Pitie Salpetriere, Inst Myol, Paris, France GH Pitie Salpetriere Paris France Salpetriere, Inst Myol, Paris, France GH Pitie Salpetriere, INSERM, UR153, Paris, France GH Pitie Salpetriere Paris France etriere, INSERM, UR153, Paris, France Strasbourg Univ, Sch Med, Serv Genet, Strasbourg, France Strasbourg Univ Strasbourg France h Med, Serv Genet, Strasbourg, France
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 4, volume: 66, anno: 2000,
pagine: 1407 - 1412
SICI:
0002-9297(200004)66:4<1407:DMITLG>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHROMATIN BINDING-SITE; NUCLEAR-ENVELOPE; HUMEROPELVIC DISTRIBUTION; ROD DOMAIN; LAMIN-A; DISEASE; EXPRESSION; IDENTIFICATION; CARDIOMYOPATHY; MEMBRANE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
32
Recensione:
Indirizzi per estratti:
Indirizzo: Toniolo, D CNR, Inst Genet Biochem & Evolut, Via Abbiategrasso 207, I-27100 Pavia, Italy CNR Via Abbiategrasso 207 Pavia Italy I-27100 100 Pavia, Italy
Citazione:
M.R. di Barletta et al., "Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy", AM J HU GEN, 66(4), 2000, pp. 1407-1412

Abstract

Emery-Dreifuss muscular dystrophy (EMD) is a condition characterized by the clinical triad of early-onset contractures, progressive weakness in humeroperoneal muscles, and cardiomyopathy with conduction block. The disease was described for the first time as an X-linked muscular dystrophy, but autosomal dominant and autosomal recessive forms were reported. The genes for X-linked EMD and autosomal dominant EMD (AD-EMD) were identified. We report here that heterozygote mutations in LMNA, the gene for AD-EMD, may cause diverse phenotypes ranging from typical EMD to no phenotypic effect. Our results show that LMNA mutations are also responsible for the recessive form of the disease. Our results give further support to the notion that different genetic forms of EMD have a common pathophysiological background. The distribution of the mutations in AD-EMD patients (in the tail and in the 2A rod domain) suggests that unique interactions between lamin A/C and other nuclear components exist that have an important role in cardiac and skeletal muscle function.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/04/20 alle ore 23:01:21