publication . Article . 2004

Naturally Protected Muscle Phenotypes: Development of Novel Treatment Strategies for Duchenne Muscular Dystrophy

Dowling, Paul; Doran, Philip; Lohan, James; Culligan, Kevin; Ohlendieck, Kay;
Open Access English
  • Published: 01 Jan 2004
  • Publisher: Unipress
  • Country: Ireland
Abstract
Primary abnormalities in the dystrophin gene underlie x-linked muscular dystrophy. However, the absence of the dystrophin isoform Dp427 does not necessarily result in a severe dystrophic phenotype in all muscle groups. Distal mdx muscles, namely extraocular and toe fibres, appear to represent a protected phenotype in muscular dystrophy. Thus, a comparative analysis of affected versus naturally protected muscle cells should lead to a greater knowledge of the molecular pathogenesis of inherited neuromuscular disorders. Furthermore, rationalising the protective cellular mechanisms might help in developing new treatment strategies for muscular dystrophy. The rescuin...
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Subjects
Medical Subject Headings: musculoskeletal diseasesmusculoskeletal system
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Article . 2004
Provider: Maynooth University ePrints & eTheses Archive
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