Muscular dystrophies: genes to pathogenesis

被引：160

作者：

Dalkilic, I ^{[1
]}

Kunkel, LM

机构：

[1] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA

[2] Childrens Hosp, Howard Hughes Med Inst, Div Genet, Boston, MA 02115 USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2003年 / 13卷 / 03期

关键词：

D O I：

10.1016/S0959-437X(03)00048-0

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Muscular dystrophies are a genetically heterogeneous group of degenerative muscle disorders. Nearly 30 genes are known to give rise to various forms of muscular dystrophy, which differ in age of onset, severity, and muscle groups affected. The number of genes identified increases each year, adding to our understanding as well as revealing the overall complexity of the pathogenesis of these diseases.

引用

页码：231 / 238

页数：8

共 72 条

[1] Achanzar WE, 1997, J CELL SCI, V110, P1073
[2] Pathophysiology of limb girdle muscular dystrophy type 2A:: hypothesis and new insights into the IκBα/NF-κB survival pathway in skeletal muscle
Baghdiguian, S
Richard, I
Martin, M
Coopman, P
Beckmann, JS
Mangeat, P
Lefranc, G
[J]. JOURNAL OF MOLECULAR MEDICINE-JMM, 2001, 79 (5-6): : 254 - 261
[3] Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A
Baghdiguian, S
Martin, M
Richard, I
Pons, F
Astier, C
Bourg, N
Hay, RT
Chemaly, R
Halaby, G
Loiselet, J
Anderson, LVB
de Munain, AL
Fardeau, M
Mangeat, P
Beckmann, JS
Lefranc, G
[J]. NATURE MEDICINE, 1999, 5 (05) : 503 - 511
[4] A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
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
[J]. NATURE GENETICS, 1998, 20 (01) : 37 - 42
[5] Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
Beltran-Valero de Bernabé, D
Currier, S
Steinbrecher, A
Celli, J
van Beusekom, E
van der Zwaag, B
Kayserili, H
Merlini, L
Chitayat, D
Dobyns, WB
Cormand, B
Lehesjoki, AE
Cruces, J
Voit, T
Walsh, CA
van Bokhoven, H
Brunner, HG
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (05) : 1033 - 1043
[6] Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
Betz, RC
Schoser, BGH
Kasper, D
Ricker, K
Ramírez, A
Stein, V
Torbergsen, T
Lee, YA
Nöthen, MM
Wienker, TF
Malin, JP
Propping, P
Reis, A
Mortier, W
Jentsch, TJ
Vorgerd, M
Kubisch, C
[J]. NATURE GENETICS, 2001, 28 (03) : 218 - 219
[7] IDENTIFICATION OF A NOVEL X-LINKED GENE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY
BIONE, S
MAESTRINI, E
RIVELLA, S
MANCINI, M
REGIS, S
ROMEO, G
TONIOLO, D
[J]. NATURE GENETICS, 1994, 8 (04) : 323 - 327
[8] Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Bonne, G
Di Barletta, MR
Varnous, S
Bécane, HM
Hammouda, EH
Merlini, L
Muntoni, F
Greenberg, CR
Gary, F
Urtizberea, JA
Duboc, D
Fardeau, M
Toniolo, D
Schwartz, K
[J]. NATURE GENETICS, 1999, 21 (03) : 285 - 288
[9] The small leucine-rich repeat proteoglycan biglycan binds to α-dystroglycan and is upregulated in dystrophic muscle
Bowe, MA
Mendis, DB
Fallon, JR
[J]. JOURNAL OF CELL BIOLOGY, 2000, 148 (04) : 801 - 810
[10] Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha 1-syntrophin mediated by PDZ domains
Brenman, JE
Chao, DS
Gee, SH
McGee, AW
Craven, SE
Santillano, DR
Wu, ZQ
Huang, F
Xia, HH
Peters, MF
Froehner, SC
Bredt, DS
[J]. CELL, 1996, 84 (05) : 757 - 767

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