First report of a novel LMNA mutation in a Chinese family with limb-girdle muscular dystrophy

被引：3

作者：

Guo Hong ^{[1
]}

Zhou Dan ^{[2
]}

Dai Limeng ^{[1
]}

Chi Luxiang ^{[2
]}

Yun Bai ^{[1
]}

机构：

[1] Third Mil Med Univ, Southwest Hosp, Coll Basic Med Sci, Dept Med Genet, Chongqing 400038, Peoples R China

[2] Third Mil Med Univ, Southwest Hosp, Dept Cardiol, Chongqing 400038, Peoples R China

来源：

JOURNAL OF GENETICS | 2014年 / 93卷 / 03期

基金：

中国国家自然科学基金;

关键词：

limb-girdle muscular dystrophy 1B (LGMD1B); lamin A/C (LMNA); pedigree; mutation; cardiac conduction block; LAMIN A/C GENE; LAMINOPATHIES; SPECTRUM; IPSCS;

D O I：

10.1007/s12041-014-0445-1

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：843 / 847

页数：5

共 13 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] Human laminopathies: nuclei gone genetically awry [J].

Capell, Brian C. ;

Collins, Francis S. .

NATURE REVIEWS GENETICS, 2006, 7 (12) :940-952

[4] Novel LMNA mutation in a Taiwanese, family with autosomal dominant Emery-Dreifuss muscular dystrophy [J].

Liang, Wen-Chen ;

Yuo, Chung-Yee ;

Liu, Chun-Ya ;

Lee, Chee-Siong ;

Goto, Kanako ;

Hayashi, Yukiko K. ;

Jong, Yuh-Jyh .

JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2007, 106 (02) :S27-S31

[5] Targeted Gene Correction of Laminopathy-Associated LMNA Mutations in Patient-Specific iPSCs [J].

Liu, Guang-Hui ;

Suzuki, Keiichiro ;

Qu, Jing ;

Sancho-Martinez, Ignacio ;

Yi, Fei ;

Li, Mo ;

Kumar, Sachin ;

Nivet, Emmanuel ;

Kim, Jessica ;

Soligalla, Rupa Devi ;

Dubova, Ilir ;

Goebl, April ;

Plongthongkum, Nongluk ;

Fung, Ho-Lim ;

Zhang, Kun ;

Loring, Jeanne F. ;

Laurent, Louise C. ;

Izpisua Belmonte, Juan Carlos .

CELL STEM CELL, 2011, 8 (06) :688-694

[6] Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome [J].

Liu, Guang-Hui ;

Barkho, Basam Z. ;

Ruiz, Sergio ;

Diep, Dinh ;

Qu, Jing ;

Yang, Sheng-Lian ;

Panopoulos, Athanasia D. ;

Suzuki, Keiichiro ;

Kurian, Leo ;

Walsh, Christopher ;

Thompson, James ;

Boue, Stephanie ;

Fung, Ho Lim ;

Sancho-Martinez, Ignacio ;

Zhang, Kun ;

Yates, John, III ;

Izpisua Belmonte, Juan Carlos .

NATURE, 2011, 472 (7342) :221-225

[7] Update on the Genetics of Limb Girdle Muscular Dystrophy [J].

Mitsuhashi, Satomi ;

Kang, Peter B. .

SEMINARS IN PEDIATRIC NEUROLOGY, 2012, 19 (04) :211-218

[8] 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

[9] Novel LMNA Mutations in Patients With Emery-Dreifuss Muscular Dystrophy and Functional Characterization of Four LMNA Mutations [J].

Scharner, Juergen ;

Brown, Charlotte A. ;

Bower, Matthew ;

Iannaccone, Susan T. ;

Khatri, Ismail A. ;

Escolar, Diana ;

Gordon, Erynn ;

Felice, Kevin ;

Crowe, Carol A. ;

Grosmann, Carla ;

Meriggioli, Matthew N. ;

Asamoah, Alexander ;

Gordon, Ora ;

Gnocchi, Viola F. ;

Ellis, Juliet A. ;

Mendell, Jerry R. ;

Zammit, Peter S. .

HUMAN MUTATION, 2011, 32 (02) :152-167

[10] Primer3-new capabilities and interfaces [J].

Untergasser, Andreas ;

Cutcutache, Ioana ;

Koressaar, Triinu ;

Ye, Jian ;

Faircloth, Brant C. ;

Remm, Maido ;

Rozen, Steven G. .

NUCLEIC ACIDS RESEARCH, 2012, 40 (15) :e115

← 1 2 →