Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C

被引：45

作者：

Shen, JJ

Brown, CA

Lupski, JR

Potocki, L

机构：

[1] Texas Childrens Hosp, Baylor Coll Med, Clin Care Ctr, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Univ Minnesota, Fairview Univ Med Ctr, Mol Diagnost Lab, Minneapolis, MN USA

[3] Texas Childrens Hosp, Dept Pediat, Houston, TX 77030 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 11期

关键词：

D O I：

10.1136/jmg.40.11.854

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：854 / 857

页数：4

共 37 条

[21] Lamins: Building blocks or regulators of gene expression? [J].

Hutchison, CJ .

NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2002, 3 (11) :848-858

[22] FAMILIAL PARTIAL LIPODYSTROPHY - 2 TYPES OF AN X-LINKED DOMINANT SYNDROME, LETHAL IN THE HEMIZYGOTIC STATE [J].

KOBBERLING, J ;

DUNNIGAN, MG .

JOURNAL OF MEDICAL GENETICS, 1986, 23 (02) :120-127

[23] The Ig-like structure of the c-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy [J].

Krimm, I ;

Östlund, C ;

Gilquin, B ;

Couprie, J ;

Hossenlopp, P ;

Mornon, JP ;

Bonne, G ;

Courvalin, JC ;

Worman, HJ ;

Zinn-Justin, S .

STRUCTURE, 2002, 10 (06) :811-823

[24] The laminopathies: nuclear structure meets disease [J].

Mounkes, L ;

Kozlov, S ;

Burke, B ;

Stewart, CL .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2003, 13 (03) :223-230

[25] Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B) [J].

Muchir, A ;

Bonne, G ;

van der Kool, AJ ;

van Meegen, M ;

Baas, F ;

Bolhuis, PA ;

de Visser, M ;

Schwartz, K .

HUMAN MOLECULAR GENETICS, 2000, 9 (09) :1453-1459

[26]

Ng D, 2000, AM J MED GENET, V95, P293, DOI 10.1002/1096-8628(20001127)95:3<293::AID-AJMG23>3.0.CO

[27]

2-5

[28] Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C [J].

Novelli, G ;

Muchir, A ;

Sangiuolo, F ;

Helbling-Leclerc, A ;

D'Apice, MR ;

Massart, C ;

Capon, F ;

Sbraccia, P ;

Federici, M ;

Lauro, R ;

Tudisco, C ;

Pallotta, R ;

Scarano, G ;

Dallapiccola, B ;

Merlini, L ;

Bonne, G .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (02) :426-431

[29] Familial mandibuloacral dysplasia - a report of four cases [J].

Prasad, PVS ;

Padmavathy, L ;

Sethurajan, S .

INTERNATIONAL JOURNAL OF DERMATOLOGY, 1998, 37 (08) :614-616

[30] LMNA, encoding lamin A/C, is mutated in partial lipodystrophy [J].

Shackleton, S ;

Lloyd, DJ ;

Jackson, SNJ ;

Evans, R ;

Niermeijer, MF ;

Singh, BM ;

Schmidt, H ;

Brabant, G ;

Kumar, S ;

Durrington, PN ;

Gregory, S ;

O'Rahilly, S ;

Trembath, RC .

NATURE GENETICS, 2000, 24 (02) :153-156

← 1 2 3 4 →