LAMININ BETA-2 CHAIN AND ADHALIN DEFICIENCY IN THE SKELETAL-MUSCLE OF WALKER-WARBURG SYNDROME (CEREBRO-OCULAR DYSPLASIA-MUSCULAR DYSTROPHY)

被引：53

作者：

WEWER, UM

DURKIN, ME

ZHANG, X

LAURSEN, H

NIELSEN, NH

TOWFIGHI, J

ENGVALL, E

ALBRECHTSEN, R

机构：

[1] UNIV COPENHAGEN,INST NEUROPATHOL,DK-2100 COPENHAGEN,DENMARK

[2] INST FORENS MED,COPENHAGEN,DENMARK

[3] PENN STATE UNIV,MILTON S HERSHEY MED CTR,DEPT NEUROPATHOL,HERSHEY,PA 17033

[4] LA JOLLA CANC RES FDN,LA JOLLA,CA 92037

[5] UNIV STOCKHOLM,DEPT DEV BIOL,STOCKHOLM,SWEDEN

来源：

NEUROLOGY | 1995年 / 45卷 / 11期

关键词：

D O I：

10.1212/WNL.45.11.2099

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Muscular dystrophy may be caused by disturbances in a number, of muscle proteins that appear to be part of a chain of interacting molecules that includes cytoskeletal, cell membrane, and basement membrane components. We found that the skeletal muscle cells in two cases of Walker-Warburg syndrome were severely deficient in the laminin beta 2 chain and in adhalin. The findings indicate that these two proteins are key molecules in the interactive protein complex conferring muscle stability and cell survival.

引用

收藏

页码：2099 / 2101

页数：3

相关论文

共 10 条

[1] DIAGNOSTIC-CRITERIA FOR WALKER-WARBURG SYNDROME [J].

DOBYNS, WB ;

PAGON, RA ;

ARMSTRONG, D ;

CURRY, CJR ;

GREENBERG, F ;

GRIX, A ;

HOLMES, LB ;

LAXOVA, R ;

MICHELS, VV ;

ROBINOW, M ;

ZIMMERMAN, RL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (02) :195-210

[2] ABNORMAL LOCALIZATION OF LAMININ SUBUNITS IN MUSCULAR-DYSTROPHIES [J].

HAYASHI, YK ;

ENGVALL, E ;

ARIKAWAHIRASAWA, E ;

GOTO, K ;

KOGA, R ;

NONAKA, I ;

SUGITA, H ;

ARAHATA, K .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1993, 119 (01) :53-64

[3]

HILLAIRE D, 1994, HUM MOL GENET, V9, P1657

[4] CEREBRO-OCULAR DYSPLASIA MUSCULAR-DYSTROPHY (WALKER WARBURG) SYNDROME - FINDINGS IN 20-WEEK-OLD FETUS [J].

MILLER, G ;

LADDA, RL ;

TOWFIGHI, J .

ACTA NEUROPATHOLOGICA, 1991, 82 (03) :234-238

[5] MISSENSE MUTATIONS IN THE ADHALIN GENE LINKED TO AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY [J].

ROBERDS, SL ;

LETURCQ, F ;

ALLAMAND, V ;

PICCOLO, F ;

JEANPIERRE, M ;

ANDERSON, RD ;

LIM, LE ;

LEE, JC ;

TOME, FMS ;

ROMERO, NB ;

FARDEAU, M ;

BECKMANN, JS ;

KAPLAN, JC ;

CAMPBELL, KP .

CELL, 1994, 78 (04) :625-633

[6] MOLECULAR HETEROGENEITY OF BASAL LAMINAE - ISOFORMS OF LAMININ AND COLLAGEN-IV AT THE NEUROMUSCULAR-JUNCTION AND ELSEWHERE [J].

SANES, JR ;

ENGVALL, E ;

BUTKOWSKI, R ;

HUNTER, DD .

JOURNAL OF CELL BIOLOGY, 1990, 111 (04) :1685-1699

[7] INCREASING COMPLEXITY OF THE DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX [J].

TINSLEY, JM ;

BLAKE, DJ ;

ZUELLIG, R ;

DAVIES, KE .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (18) :8307-8313

[8] GENETIC IDENTITY OF FUKUYAMA-TYPE CONGENITAL MUSCULAR-DYSTROPHY AND WALKER-WARBURG SYNDROME [J].

TODA, T ;

YOSHIOKA, M ;

NAKAHORI, Y ;

KANAZAWA, I ;

NAKAMURA, Y ;

NAKAGOME, Y .

ANNALS OF NEUROLOGY, 1995, 37 (01) :99-101

[9] HUMAN BETA-2 CHAIN OF LAMININ (FORMERLY S-CHAIN) - CDNA CLONING, CHROMOSOMAL LOCALIZATION, AND EXPRESSION IN CARCINOMAS [J].

WEWER, UM ;

GERECKE, DR ;

DURKIN, ME ;

KURTZ, KS ;

MATTEI, MG ;

CHAMPLIAUD, MF ;

BURGESON, RE ;

ALBRECHTSEN, R .

GENOMICS, 1994, 24 (02) :243-252

[10] MURINE MUSCULAR-DYSTROPHY CAUSED BY A MUTATION IN THE LAMININ ALPHA-2 (LAMA2) GENE [J].

XU, H ;

WU, XR ;

WEWER, UM ;

ENGVALL, E .

NATURE GENETICS, 1994, 8 (03) :297-302