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Revertant fibres: A possible genetic therapy for Duchenne muscular dystrophy?
Journal article   Peer reviewed

Revertant fibres: A possible genetic therapy for Duchenne muscular dystrophy?

S.D. Wilton, D.E. Dye, L.M. Blechynden and N.G. Laing
Neuromuscular Disorders, Vol.7(5), pp.329-335
1997
DOI: https://doi.org/10.1016/S0960-8966(97)00058-8
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Abstract

The mdx mouse, an animal model used to study Duchenne muscular dystrophy (DMD), has a nonsense mutation in exon 23 of the dystrophin gene which should result in a truncated protein that cannot be correctly localized at the sarcolemma of the muscle fibres. Immunohistochemical staining with anti-dystrophin antibodies had shown that while most of the muscle tissue was dystrophin-negative, a small percentage of muscle fibres were clearly dystrophin-positive and had somehow by-passed the primary nonsense mutation. A nested PCR-based examination of dystrophin gene transcripts around the mdx mutation revealed several alternatively processed transcripts, of which four mRNA species skipped the mutation in exon 23, were in-frame and could be translated into a shorter, but still functional dystrophin protein. Specific tests for these transcripts demonstrated these were also present in normal adult and embryonic mouse muscle tissue.

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Source: InCites

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Citation topics
1 Clinical & Life Sciences
1.255 Musculoskeletal Disorders
1.255.628 Duchenne Muscular Dystrophy
Web Of Science research areas
Clinical Neurology
Neurosciences
ESI research areas
Neuroscience & Behavior
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