Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes -: art. no. e132

被引:98
作者
Vytopil, M
Benedetti, S
Ricci, E
Galluzzi, G
Dello Russo, A
Merlini, L
Boriani, G
Gallina, M
Morandi, L
Politano, L
Moggio, M
Chiveri, L
Hausmanova-Petrusewicz, I
Ricotti, R
Vohanka, S
Toman, J
Toniolo, D
机构
[1] San Raffaele Sci Inst, DIBIT, I-20132 Milan, Italy
[2] CNR, Inst Mol Genet, I-27100 Pavia, Italy
[3] Univ Hosp Brno, Dept Neurol, Brno, Czech Republic
[4] St Annes Univ Hosp, Dept Internal Med, Brno, Czech Republic
[5] Univ Sacred Heart, Inst Neurol, I-00168 Rome, Italy
[6] Univ Sacred Heart, Inst Cardiol, I-00168 Rome, Italy
[7] Ist Ortoped Rizzoli, Neuromuscular Unit, Bologna, Italy
[8] Univ Bologna, Inst Cardiol, I-40126 Bologna, Italy
[9] Besta Neurol Inst, Milan, Italy
[10] Univ Naples, Dept Med Genet, Naples, Italy
[11] Univ Milan, Dept Neurol, Milan, Italy
[12] Polish Acad Sci, Med Res Ctr, Warsaw, Poland
[13] UILDM Rome Sect, Ctr Neuromuscular Dis, Rome, Italy
来源
JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 12期
关键词
D O I
10.1136/jmg.40.12.e132
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页数:5
相关论文
共 23 条
[1]  
Bonne G, 2000, ANN NEUROL, V48, P170, DOI 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO
[2]  
2-J
[3]   Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement [J].
Brodsky, GL ;
Muntoni, F ;
Miocic, S ;
Sinagra, G ;
Sewry, C ;
Mestroni, L .
CIRCULATION, 2000, 101 (05) :473-476
[4]   Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy [J].
Brown, CA ;
Lanning, RW ;
McKinney, KQ ;
Salvino, AR ;
Cherniske, E ;
Crowe, CA ;
Darras, BT ;
Gominak, S ;
Greenberg, CR ;
Grosmann, C ;
Heydemann, P ;
Mendell, JR ;
Pober, BR ;
Sasaki, T ;
Shapiro, F ;
Simpson, DA ;
Suchowersky, O ;
Spence, JE .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 102 (04) :359-367
[5]   Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy [J].
Cao, H ;
Hegele, RA .
HUMAN MOLECULAR GENETICS, 2000, 9 (01) :109-112
[6]   LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090) [J].
Cao, HN ;
Hegele, RA .
JOURNAL OF HUMAN GENETICS, 2003, 48 (05) :271-274
[7]   EPIDEMIOLOGY OF IDIOPATHIC DILATED AND HYPERTROPHIC CARDIOMYOPATHY - A POPULATION-BASED STUDY IN OLMSTED COUNTY, MINNESOTA, 1975-1984 [J].
CODD, MB ;
SUGRUE, DD ;
GERSH, BJ ;
MELTON, LJ .
CIRCULATION, 1989, 80 (03) :564-572
[8]   Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse [J].
De Sandre-Giovannoli, A ;
Chaouch, M ;
Kozlov, S ;
Vallat, JM ;
Tazir, M ;
Kassouri, N ;
Szepetowski, P ;
Hammadouche, T ;
Vandenberghe, A ;
Stewart, CL ;
Grid, D ;
Lévy, N .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (03) :726-736
[9]   Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy [J].
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 .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (04) :1407-1412
[10]   UNUSUAL TYPE OF BENIGN X-LINKED MUSCULAR DYSTROPHY [J].
EMERY, AEH ;
DREIFUSS, FE .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1966, 29 (04) :338-&