A common nonsense mutation results in α-actinin-3 deficiency in the general population

被引:305
作者
North, KN [1 ]
Yang, N
Wattanasirichaigoon, D
Mills, M
Easteal, S
Beggs, AH
机构
[1] Royal Alexandra Hosp Children, Neurogenet Res Unit, Sydney, NSW, Australia
[2] Univ Sydney, Dept Paediat & Child Hlth, Sydney, NSW 2006, Australia
[3] Harvard Univ, Childrens Hosp, Sch Med, Div Genet, Boston, MA 02115 USA
[4] Australian Natl Univ, John Curtin Sch Med Res, Human Genet Grp, Canberra, ACT 2601, Australia
关键词
D O I
10.1038/7675
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:353 / 354
页数:2
相关论文
共 12 条
[1]  
BEGGS AH, 1992, J BIOL CHEM, V267, P9281
[2]   THE STRUCTURE AND FUNCTION OF ALPHA-ACTININ [J].
BLANCHARD, A ;
OHANIAN, V ;
CRITCHLEY, D .
JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY, 1989, 10 (04) :280-289
[3]   Human skeletal muscle-specific α-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo [J].
Chan, YM ;
Tong, HQ ;
Beggs, AH ;
Kunkel, LM .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1998, 248 (01) :134-139
[4]   Evolutionary origins and maintenance of redundant gene expression during metazoan development [J].
Cooke, J ;
Nowak, MA ;
Boerlijst, M ;
MaynardSmith, J .
TRENDS IN GENETICS, 1997, 13 (09) :360-364
[5]   Further analysis of the role of spectrin repeat motifs in alpha-actinin dimer formation [J].
Flood, G ;
Rowe, AJ ;
Critchley, DR ;
Gratzer, WB .
EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS, 1997, 25 (5-6) :431-435
[8]   PROGRESSIVE DEPLETION OF FAST ALPHA-ACTININ - POSITIVE MUSCLE-FIBERS IN DUCHENNE MUSCULAR-DYSTROPHY [J].
MINETTI, C ;
RICCI, E ;
BONILLA, E .
NEUROLOGY, 1991, 41 (12) :1977-1981
[9]   Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy [J].
North, KN ;
Beggs, AH .
NEUROMUSCULAR DISORDERS, 1996, 6 (04) :229-235
[10]  
Simoneau JA, 1998, PEDIATRIC ANAEROBIC PERFORMANCE, P5