Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome

被引：86

作者：

Plasilova, M

Chattopadhyay, C

Pal, P

Schaub, NA

Buechner, SA

Mueller, H

Miny, P

Ghosh, A

Heinimann, K

机构：

[1] Univ Childrens Hosp, Res Grp Human Genet, Div Med Genet, CH-4005 Basel, Switzerland

[2] Dept Res, CH-4005 Basel, Switzerland

[3] Inst Child Hlth, Kolkata 700017, W Bengal, India

[4] Univ Basel, Calcutta Project Fdn, CH-4031 Basel, Switzerland

[5] SB Devi Char Home, Kolkata 700006, W Bengal, India

[6] Univ Clin, Dept Dermatol, CH-4031 Basel, Switzerland

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 08期

关键词：

D O I：

10.1136/jmg.2004.019661

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：609 / 614

页数：6

共 32 条

[1]

[Anonymous], 1886, LANCET

[2]

Bonne G, 2000, ANN NEUROL, V48, P170, DOI 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO

[3]

2-J

[4] Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy [J].

Bonne, G ;

Di Barletta, MR ;

Varnous, S ;

Bécane, HM ;

Hammouda, EH ;

Merlini, L ;

Muntoni, F ;

Greenberg, CR ;

Gary, F ;

Urtizberea, JA ;

Duboc, D ;

Fardeau, M ;

Toniolo, D ;

Schwartz, K .

NATURE GENETICS, 1999, 21 (03) :285-288

[5] 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

[6] Life at the edge: The nuclear envelope and human disease [J].

Burke, B ;

Stewart, CL .

NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2002, 3 (08) :575-585

[7] 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

[8] LMNA mutations in atypical Werner's syndrome [J].

Chen, LS ;

Lee, L ;

Kudlow, BA ;

Dos Santos, HG ;

Sletvold, O ;

Shafeghati, Y ;

Botha, EG ;

Garg, A ;

Hanson, NB ;

Martin, GM ;

Mian, IS ;

Kennedy, BK ;

Oshima, J .

LANCET, 2003, 362 (9382) :440-445

[9] Lamin A truncation in Hutchinson-Gilford progeria [J].

De Sandre-Giovannoli, A ;

Bernard, R ;

Cau, P ;

Navarro, C ;

Amiel, J ;

Boccaccio, I ;

Lyonnet, S ;

Stewart, CL ;

Munnich, A ;

Le Merrer, M ;

Lévy, N .

SCIENCE, 2003, 300 (5628) :2055-2055

[10] HUTCHINSON-GILFORD PROGERIA SYNDROME - REPORT OF 4 CASES AND REVIEW OF LITERATURE [J].

DEBUSK, FL .

JOURNAL OF PEDIATRICS, 1972, 80 (05) :697-+

← 1 2 3 4 →