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
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
[J]. NATURE GENETICS, 1999, 21 (03) : 285 - 288
[5] Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
Brodsky, GL
Muntoni, F
Miocic, S
Sinagra, G
Sewry, C
Mestroni, L
[J]. CIRCULATION, 2000, 101 (05) : 473 - 476
[6] Life at the edge: The nuclear envelope and human disease
Burke, B
Stewart, CL
[J]. 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)
Cao, HN
Hegele, RA
[J]. JOURNAL OF HUMAN GENETICS, 2003, 48 (05) : 271 - 274
[8] LMNA mutations in atypical Werner's syndrome
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
[J]. LANCET, 2003, 362 (9382) : 440 - 445
[9] Lamin A truncation in Hutchinson-Gilford progeria
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
[J]. SCIENCE, 2003, 300 (5628) : 2055 - 2055
[10] HUTCHINSON-GILFORD PROGERIA SYNDROME - REPORT OF 4 CASES AND REVIEW OF LITERATURE
DEBUSK, FL
[J]. JOURNAL OF PEDIATRICS, 1972, 80 (05) : 697 - +

← 1 2 3 4 →