Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

被引：155

作者：

Bittner, RE

Anderson, LVB

Burkhardt, E

Bashir, R

Vafiadaki, E

Ivanova, S

Raffelsberger, T

Maerk, I

Höger, H

Jung, M

Karbasiyan, M

Storch, M

Lassmann, H

Moss, JA

Davison, K

Harrison, R

Bushby, KMD

Reis, A

机构：

[1] Univ Vienna, Inst Anat, Neuromuscular Res Dept, A-1090 Vienna, Austria

[2] Univ Newcastle Upon Tyne, Sch Med, Dept Neurobiol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[3] Max Delbruck Ctr Mol Med, Mikrosatellitenzentrum, D-13092 Berlin, Germany

[4] Univ Newcastle Upon Tyne, Sch Biochem & Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[5] Res Inst Lab Anim Breeding, A-2325 Himberg, Austria

[6] Univ Vienna, Brain Res Inst, A-1090 Vienna, Austria

[7] Humboldt Univ, Charite, Inst Human Genet, D-13353 Berlin, Germany

[8] Graz Univ, Dept Neurol, Graz, Austria

来源：

NATURE GENETICS | 1999年 / 23卷 / 02期

关键词：

D O I：

10.1038/13770

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：141 / 142

页数：2

共 14 条

[1] Dysferlin is a plasma membrane protein and is expressed early in human development [J].

Anderson, LVB ;

Davison, K ;

Moss, JA ;

Young, C ;

Cullen, MJ ;

Walsh, J ;

Johnson, MA ;

Bashir, R ;

Britton, S ;

Keers, S ;

Argov, Z ;

Mahjneh, I ;

Fougerousse, F ;

Beckmann, JS ;

Bushby, KMD .

HUMAN MOLECULAR GENETICS, 1999, 8 (05) :855-861

[2] A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B [J].

Bashir, R ;

Britton, S ;

Strachan, T ;

Keers, S ;

Vafiadaki, E ;

Lako, M ;

Richard, I ;

Marchand, S ;

Bourg, N ;

Argov, Z ;

Sadeh, M ;

Mahjneh, I ;

Marconi, G ;

Passos-Bueno, MR ;

Moreira, ED ;

Zatz, M ;

Beckmann, JS ;

Bushby, K .

NATURE GENETICS, 1998, 20 (01) :37-42

[3] A GENE FOR AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY MAPS TO CHROMOSOME 2P [J].

BASHIR, R ;

STRACHAN, T ;

KEERS, S ;

STEPHENSON, A ;

MAHJNEH, I ;

MARCONI, G ;

NASHEF, L ;

BUSHBY, KMD .

HUMAN MOLECULAR GENETICS, 1994, 3 (03) :455-457

[4] LINKAGE OF MIYOSHI MYOPATHY (DISTAL AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY) LOCUS TO CHROMOSOME 2P12-14 [J].

BEJAOUI, K ;

HIRABAYASHI, K ;

HENTATI, F ;

HAINES, JL ;

BENHAMIDA, C ;

BELAL, S ;

MILLER, RG ;

MCKENNAYASEK, D ;

WEISSENBACH, J ;

ROWLAND, LP ;

GRIGGS, RC ;

MUNSAT, TL ;

BENHAMIDA, M ;

ARAHATA, K ;

BROWN, RH .

NEUROLOGY, 1995, 45 (04) :768-772

[5]

BERNARD CCA, 1975, J IMMUNOL, V114, P1537

[6]

FESTING MFW, 1979, INBRED STRAINS BIOME, P255

[7]

GROUNDS MD, 1989, CELL TISSUE RES, V255, P385

[8]

HOHLFELD R, 1988, MUSCLE NERVE, V11, P184

[9] Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy [J].

Liu, J ;

Aoki, M ;

Illa, I ;

Wu, CY ;

Fardeau, M ;

Angelini, C ;

Serrano, C ;

Urtizberea, JA ;

Hentati, F ;

Ben Hamida, M ;

Bohlega, S ;

Culper, EJ ;

Amato, AA ;

Bossie, K ;

Oeltjen, T ;

Bejaoui, K ;

McKenna-Yasek, D ;

Hosler, BA ;

Schurr, E ;

Arahata, K ;

de Jong, PJ ;

Brown, RH .

NATURE GENETICS, 1998, 20 (01) :31-36

[10]

ROSENBERG NL, 1987, CLIN EXP IMMUNOL, V68, P117

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