Intermediate filament-related myopathies

被引：13

作者：

Banwell, BL ^{[1
]}

机构：

[1] Hosp Sick Children, Dept Pediat Neurol, Toronto, ON M5G 1X8, Canada

来源：

PEDIATRIC NEUROLOGY | 2001年 / 24卷 / 04期

关键词：

D O I：

10.1016/S0887-8994(00)00248-4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The dynamic and critical role of intermediate filaments in muscle is highlighted by myopathies characterized by aberrant accumulation of intermediate filaments, In some affected patients, mutations in genes encoding intermediate filaments that are expressed in muscle have been confirmed. The importance of intermediate filaments in muscle is further strengthened by murine models in which genetically designed intermediate filament mutations are expressed, leading to progressive skeletal or cardioskeletal myopathy in affected mice. In this article the intermediate filaments expressed in muscle are reviewed, and the clinical and pathologic features of myopathies known to relate to intermediate filaments are described, With the increasing awareness of intermediate filaments in muscle and the rapid advances in genetic investigation, it is likely that the list of intermediate filament-related myopathies will expand. (C) 2001 by Elsevier Science Inc. All rights reserved.

引用

页码：257 / 263

页数：7

共 58 条

[1] Desmin myopathy involving cardiac, skeletal, and vascular smooth muscle: Report of a case with immunoelectron microscopy [J].

Abraham, SC ;

DeNofrio, D ;

Loh, E ;

Minda, JM ;

Tomaszewski, JE ;

Pietra, GG ;

Reynolds, C .

HUMAN PATHOLOGY, 1998, 29 (08) :876-882

[2] The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis [J].

Amato, AA ;

Kagan-Hallet, K ;

Jackson, CE ;

Lampkin, S ;

Wolfe, GI ;

Ferrante, M ;

Bigio, EH ;

Barohn, RJ .

NEUROLOGY, 1998, 51 (06) :1646-1655

[3] Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture [J].

Andra, K ;

Lassmann, H ;

Bittner, R ;

Shorny, S ;

Fassler, R ;

Propst, F ;

Wiche, G .

GENES & DEVELOPMENT, 1997, 11 (23) :3143-3156

[4] Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency [J].

Banwell, BL ;

Russel, J ;

Fukudome, T ;

Shen, XM ;

Stilling, G ;

Engel, AG .

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1999, 58 (08) :832-846

[5] Molecular characteristics and interactions of the intermediate filament protein synemin -: Interactions with α-actinin may anchor synemin-containing heterofilaments [J].

Bellin, RM ;

Sernett, SW ;

Becker, B ;

Ip, W ;

Huiatt, TW ;

Robson, RM .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (41) :29493-29499

[6] IDENTIFICATION OF A NOVEL X-LINKED GENE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY [J].

BIONE, S ;

MAESTRINI, E ;

RIVELLA, S ;

MANCINI, M ;

REGIS, S ;

ROMEO, G ;

TONIOLO, D .

NATURE GENETICS, 1994, 8 (04) :323-327

[7] Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy [J].

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 .

NATURE GENETICS, 1999, 21 (03) :285-288

[8] ANTIVIMENTIN STAINING IN MUSCLE PATHOLOGY [J].

BORNEMANN, A ;

SCHMALBRUCH, H .

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 1993, 19 (05) :414-419

[9] Desmin in muscle formation and maintenance: Knockouts and consequences [J].

Capetanaki, Y ;

Milner, DJ ;

Weitzer, G .

CELL STRUCTURE AND FUNCTION, 1997, 22 (01) :103-116

[10] A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy [J].

Chavanas, S ;

Pulkkinen, L ;

Gache, Y ;

Smith, FJD ;

McLean, WHI ;

Uitto, J ;

Ortonne, JP ;

Meneguzzi, G .

JOURNAL OF CLINICAL INVESTIGATION, 1996, 98 (10) :2196-2200

← 1 2 3 4 5 6 →