Download PDF by Anthony P. Monaco (auth.), Terence Partridge (eds.): Molecular and Cell Biology of Muscular Dystrophy

By Anthony P. Monaco (auth.), Terence Partridge (eds.)

ISBN-10: 9401046670

ISBN-13: 9789401046671

ISBN-10: 9401115281

ISBN-13: 9789401115285

Molecular and phone Biology of Muscular Dystrophy offers a chain of money owed of varied facets of the awesome leap forward which has been accomplished in our realizing of the Duchenne/Becker muscular dystrophies and of the implications and ramifications of this breakthrough.

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N. (1992a) Characterization of dystrophin in foetuses at risk for Duchenne muscular dystrophy. J. Neural. , In press. A. (1992b). Characterisation of dystrophin in 32 REFERENCES human foetal skeletal muscle. Development, 114,395-402. E. et al. (1990) Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin eDNA probes. J. Med. , 27, 292-7. A. et al. (1990) Mosaic expression of dystrophin in carriers of canine X-linked muscular dystrophy. Lab. , 62, 171-8. , Lerone, M.

Shown are cryosections from 18 week fetopsy specimens. The antibody used was 60 kDa, and all experiments were done in parallel, with the photographic exposure times identical. Dystrophin deficiency is clearly manifested biochemically from the point at which muscle fibres first form in fetal life, however the clinical phenotype does not become apparent until much later in life. Bar = 100 Ilm. , 1990) probably exist, and these would also be expected to cause dystrophin catabolism. The future identification of these point mutations is critical for the understanding of dystrophin structure and function.

Am. J. Med. , 40, 354-64. J. et al. (1988) Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science, 242, 755-9. , Nishio, H. et al. (1991) Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe. J. Clin. , 87, 2127-31. H. H. (1989) Genetic abnormalities in Duchenne and Becker dystrophies: Clinical correlations. Neurology, 39, 461-5. , Medori, R. et al. (1991) Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype.

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Molecular and Cell Biology of Muscular Dystrophy by Anthony P. Monaco (auth.), Terence Partridge (eds.)


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