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...
Subjects
Medical Subject Headings: musculoskeletal diseasesmusculoskeletal system
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