Nemaline myopathy: current concepts

被引:142
作者
North, KN [1 ]
Laing, NG [1 ]
WallgrenPettersson, C [1 ]
Akkari, A [1 ]
Barohn, R [1 ]
Barth, P [1 ]
Beggs, A [1 ]
delaChapelle, A [1 ]
deVisser, M [1 ]
Dubowitz, V [1 ]
Fiszman, M [1 ]
Goebel, H [1 ]
Iannaccone, S [1 ]
Jasani, B [1 ]
Labeit, S [1 ]
Lammens, M [1 ]
Navarro, C [1 ]
Newman, G [1 ]
Pelin, K [1 ]
Romero, N [1 ]
Sewry, C [1 ]
Sloane, A [1 ]
机构
[1] QUEEN ELIZABETH II MED CTR,AUSTRALIAN NEUROMUSCULAR RES INST,NEDLANDS,WA,AUSTRALIA
关键词
nemaline myopathy; congenital myopathy; tropomyosin; alpha-actinin;
D O I
10.1136/jmg.34.9.705
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:705 / 713
页数:9
相关论文
共 108 条
[1]   CONGENITAL NONPROGRESSIVE MYOPATHY - CENTRAL CORE DISEASE AND NEMALINE MYOPTAHY IN 1 FAMILY [J].
AFIFI, AK ;
SMITH, JW ;
ZELLWEGER, H .
NEUROLOGY, 1965, 15 (04) :371-+
[2]   NORMAL CARDIAC CONTRACTILITY IN PATIENTS WITH CONGENITAL NEMALINE MYOPATHY [J].
AIRENNE, AL ;
WALLGRENPETTERSSON, C .
NEUROPEDIATRICS, 1988, 19 (03) :115-117
[3]   CONGENITAL NEMALINE MYOPATHY - 2 PATIENTS WITH CONSANGUINEOUS PARENTS, ONE WITH A PROGRESSIVE COURSE [J].
ARTS, WF ;
DEGROOT, CJ .
JOURNAL OF NEUROLOGY, 1983, 230 (02) :123-130
[4]   INVESTIGATIONS ON INHERITANCE OF NEMALINE MYOPATHY [J].
ARTS, WF ;
BETHLEM, J ;
DINGEMANS, KP ;
ERIKSSON, AW .
ARCHIVES OF NEUROLOGY, 1978, 35 (02) :72-77
[5]   ANESTHESIA FOR CARDIAC-SURGERY IN CHILDREN WITH NEMALINE MYOPATHY [J].
ASAI, T ;
FUJISE, K ;
UCHIDA, M .
ANAESTHESIA, 1992, 47 (05) :405-408
[6]  
BANKER BQ, 1986, MYOLOGY BASIC CLIN, P1536
[7]  
BANWELL BL, 1994, PEDIATR NEUROL, V10, P335
[8]   NEONATAL NEMALINE MYOPATHY WITH ABUNDANT INTRANUCLEAR RODS [J].
BAROHN, RJ ;
JACKSON, CE ;
KAGANHALLET, KS .
NEUROMUSCULAR DISORDERS, 1994, 4 (5-6) :513-520
[9]   NEMALINE (ROD) MYOPATHY - NEED FOR HISTOCHEMICAL EVALUATION OF AFFECTED FAMILIES [J].
BENDER, AN ;
WILLNER, JP .
ANNALS OF NEUROLOGY, 1978, 4 (01) :37-42
[10]   NEMALINE MYOPATHY - 2 AUTOPSY REPORTS [J].
BERGMANN, M ;
KAMARAMPAKA, M ;
KUCHELMEISTER, K ;
KLEIN, H ;
KOCH, H .
CHILDS NERVOUS SYSTEM, 1995, 11 (10) :610-615