ADHALIN GENE-MUTATIONS AND AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY

被引:15
作者
CAMPBELL, KP
机构
关键词
D O I
10.1002/ana.410380302
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:353 / 354
页数:2
相关论文
共 14 条
[1]   3 MUSCULAR-DYSTROPHIES - LOSS OF CYTOSKELETON EXTRACELLULAR-MATRIX LINKAGE [J].
CAMPBELL, KP .
CELL, 1995, 80 (05) :675-679
[2]   DEFICIENCY OF A GLYCOPROTEIN COMPONENT OF THE DYSTROPHIN COMPLEX IN DYSTROPHIC MUSCLE [J].
ERVASTI, JM ;
OHLENDIECK, K ;
KAHL, SD ;
GAVER, MG ;
CAMPBELL, KP .
NATURE, 1990, 345 (6273) :315-319
[3]   IDENTIFICATION OF NOVEL PROTEINS UNIQUE TO EITHER TRANSVERSE TUBULES (TS28) OR THE SARCOLEMMA (SL50) IN RABBIT SKELETAL-MUSCLE [J].
JORGENSEN, AO ;
ARNOLD, W ;
SHEN, ACY ;
YUAN, SH ;
GAVER, M ;
CAMPBELL, KP .
JOURNAL OF CELL BIOLOGY, 1990, 110 (04) :1173-1185
[4]  
KAWAI H, 1995, IN PRESS J CLIN INVE
[5]   PRIMARY ADHALIN DEFICIENCY AS A CAUSE OF MUSCULAR-DYSTROPHY IN PATIENTS WITH NORMAL DYSTROPHIN [J].
LJUNGGREN, A ;
DUGGAN, D ;
MCNALLY, E ;
BOYLAN, KB ;
GAMA, CH ;
KUNKEL, LM ;
HOFFMAN, EP .
ANNALS OF NEUROLOGY, 1995, 38 (03) :367-372
[6]   DEFICIENCY OF THE 50K DYSTROPHIN-ASSOCIATED GLYCOPROTEIN IN SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY [J].
MATSUMURA, K ;
TOME, FMS ;
COLLIN, H ;
AZIBI, K ;
CHAOUCH, M ;
KAPLAN, JC ;
FARDEAU, M ;
CAMPBELL, KP .
NATURE, 1992, 359 (6393) :320-322
[7]   HUMAN ADHALIN IS ALTERNATIVELY SPLICED AND THE GENE IS LOCATED ON CHROMOSOME 17Q21 [J].
MCNALLY, EM ;
YOSHIDA, M ;
MIZUNO, Y ;
OZAWA, E ;
KUNKEL, LM .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (21) :9690-9694
[8]   SELECTIVE DEFECT OF SARCOGLYCAN COMPLEX IN SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY MUSCLE [J].
MIZUNO, Y ;
NOGUCHI, S ;
YAMAMOTO, H ;
YOSHIDA, M ;
SUZUKI, A ;
HAGIWARA, Y ;
HAYASHI, YK ;
ARAHATA, K ;
NONAKA, I ;
HIRAI, S ;
OZAWA, E .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1994, 203 (02) :979-983
[9]  
Othmane Kamel Ben, 1992, Nature Genetics, V2, P315
[10]  
PASSOSBUENO MR, 1995, HUM MOL GENET, V4, P1163