Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy

被引：9

作者：

Gurgel-Giannetti, J

Bang, ML

Reed, U

Marie, S

Zatz, M

Labeit, S

Vainzof, M

机构：

[1] Univ Sao Paulo, Biosci Inst, Ctr Study Human Genome, BR-05508900 Sao Paulo, Brazil

[2] Univ Sao Paulo, Sch Med, Dept Neurol, Sao Paulo, Brazil

[3] European Mol Biol Lab, Heidelberg, Germany

来源：

MUSCLE & NERVE | 2002年 / 25卷 / 05期

关键词：

congenital myopathies; nebulin; nemaline myopathy; Western blot;

D O I：

10.1002/mus.10097

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The most common autosomal recessive form of nemaline myopathy is due to mutations in the nebulin gene. Among eight patients studied, we identified one, a 14-year-old girl, with a specific pattern of diffuse rods in muscle fibers. Western blot analysis detected absence of the C-terminal domain of nebulin Protein analysis may represent a good screening method to direct molecular studies in the case of very large and complex genes such as the large 1298 kb nebulin gene. (C) 2002 Wiley Periodicals, Inc.

引用

收藏

页码：747 / 752

页数：6

相关论文

共 19 条

[1] Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies [J].

Bang, ML ;

Mudry, RE ;

McElhinny, AS ;

Trombitás, K ;

Geach, AJ ;

Yamasaki, R ;

Sorimachi, H ;

Granzier, H ;

Gregorio, CC ;

Labeit, S .

JOURNAL OF CELL BIOLOGY, 2001, 153 (02) :413-427

[2]

DONNER K, 2000, NEUROMUSCULAR DISORD, V10, P342

[3]

Dubowitz V, 1985, Muscle biopsy, V2

[4] THE ORGANIZATION OF TITIN FILAMENTS IN THE HALF-SARCOMERE REVEALED BY MONOCLONAL-ANTIBODIES IN IMMUNOELECTRON MICROSCOPY - A MAP OF 10 NONREPETITIVE EPITOPES STARTING AT THE Z-LINE EXTENDS CLOSE TO THE M-LINE [J].

FURST, DO ;

OSBORN, M ;

NAVE, R ;

WEBER, K .

JOURNAL OF CELL BIOLOGY, 1988, 106 (05) :1563-1572

[5] Nebulin expression in patients with nemaline myopathy [J].

Gurgel-Giannetti, J ;

Reed, U ;

Bang, ML ;

Pelin, K ;

Donner, K ;

Marie, SK ;

Carvalho, M ;

Fireman, MAT ;

Zanoteli, E ;

Oliveira, ASB ;

Zatz, M ;

Wallgren-Pettersson, C ;

Labeit, S ;

Vainzof, M .

NEUROMUSCULAR DISORDERS, 2001, 11 (02) :154-162

[6] DYSTROPHIN - A SENSITIVE AND RELIABLE IMMUNOCHEMICAL ASSAY IN TISSUE AND CELL-CULTURE HOMOGENATES [J].

HOKIM, MA ;

BEDARD, A ;

VINCENT, M ;

ROGERS, PA .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1991, 181 (03) :1164-1172

[7] A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. [J].

Johnston, JJ ;

Kelley, RI ;

Crawford, TO ;

Morton, DH ;

Agarwala, R ;

Koch, T ;

Schäffer, AA ;

Francomano, CA ;

Biesecker, LG .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) :54-54

[8]

LABEIT S, 1995, J MOL BIOL, V248, P308, DOI 10.1016/S0022-2836(95)80052-2

[9] A MUTATION IN THE ALPHA-TROPOMYOSIN GENE TPM3 ASSOCIATED WITH AUTOSOMAL-DOMINANT NEMALINE MYOPATHY [J].

LAING, NG ;

WILTON, SD ;

AKKARI, PA ;

DOROSZ, S ;

BOUNDY, K ;

KNEEBONE, C ;

BLUMBERGS, P ;

WHITE, S ;

WATKINS, H ;

LOVE, DR ;

HAAN, E .

NATURE GENETICS, 1995, 9 (01) :75-79

[10] The N-terminal end of nebulin interacts with tropomodulin at the pointed ends of the thin filaments [J].

McElhinny, AS ;

Kolmerer, B ;

Fowler, VM ;

Labeit, S ;

Gregorio, CC .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (01) :583-592