Literature DB >> 2693618

Dystrophin in skeletal muscle. II. Immunoreactivity in patients with Xp21 muscular dystrophy.

L V Nicholson1, K Davison, M A Johnson, C R Slater, C Young, S Bhattacharya, D Gardner-Medwin, J B Harris.   

Abstract

In the preceding paper a sensitive Western blotting analysis system based on the use of a monoclonal antibody to dystrophin was described. Here we report the immunoreactivity on blots and on unfixed frozen sections of muscle from patients with Duchenne (DMD) and Becker (BMD) muscular dystrophy. Muscle from 3 BMD patients showed variation both in the band pattern observed on blots and in the immunocytochemical labelling of dystrophin on frozen sections. In contrast to previous reports, we were able to detect some minor dystrophin bands on blots from 6 of 9 DMD biopsy samples. Tissue sections from 8 of the 9 contained isolated fibres with dystrophin-positive labelling. We conclude that the majority of DMD patients have muscle fibres which can synthesize dystrophin in a limited manner.

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Year:  1989        PMID: 2693618     DOI: 10.1016/0022-510x(89)90224-4

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  31 in total

Review 1.  Molecular biology of neurological diseases.

Authors:  W J Cumming
Journal:  Postgrad Med J       Date:  1992-04       Impact factor: 2.401

2.  A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane.

Authors:  T R Helliwell; J M Ellis; R C Mountford; R E Appleton; G E Morris
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

3.  A model to estimate the expression of the dystrophin gene in muscle from female Becker muscular dystrophy carriers.

Authors:  M Vainzof; M R Passos-Bueno; R C Pavanello; R Schreiber; M Zatz
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

Review 4.  Therapeutic potential of splice-switching oligonucleotides.

Authors:  John Bauman; Natee Jearawiriyapaisarn; Ryszard Kole
Journal:  Oligonucleotides       Date:  2009-03

5.  A normal male with an inherited deletion of one exon within the DMD gene.

Authors:  M Nordenskjöld; L Nicholson; L Edström; M Anvret; M Eiserman; C Slater; L Stolpe
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

6.  Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers.

Authors:  C J Klein; D D Coovert; D E Bulman; P N Ray; J R Mendell; A H Burghes
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

Review 7.  Therapeutic restoration of dystrophin expression in Duchenne muscular dystrophy.

Authors:  Dominic J Wells
Journal:  J Muscle Res Cell Motil       Date:  2006-07-28       Impact factor: 2.698

8.  Abnormal dystrophin expression in patients with limb girdle syndromes.

Authors:  S Beyenburg; S Zierz; K Arahata; R R Mundegar; W Friedl; F Jerusalem
Journal:  J Neurol       Date:  1994-02       Impact factor: 4.849

9.  Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy.

Authors:  L V Nicholson; M A Johnson; K M Bushby; D Gardner-Medwin
Journal:  Arch Dis Child       Date:  1993-05       Impact factor: 3.791

10.  An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.

Authors:  Rachele Cagliani; Manuela Sironi; Emma Ciafaloni; Alessandra Bardoni; Francesco Fortunato; Alessandro Prelle; Massimo Serafini; Nereo Bresolin; Giacomo P Comi
Journal:  Hum Genet       Date:  2004-04-30       Impact factor: 4.132

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