Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model.

ABSTRACT: Duchenne muscular dystrophy (DMD) is a devastating disease that dramatically decreases the lifespan and abilities of affected young people. The primary molecular cause of the disease is the absence of functional dystrophin protein, which is critical to proper muscle function. Those with DMD vary in disease presentation and dystrophin mutation; the same causal mutation may be associated with drastically different levels of disease severity. Also contributing to this variation are the influences of additional modifying genes and/or changes in functional elements governing such modifiers. This genetic heterogeneity complicates the efficacy of treatment methods and to date medical interventions are limited to treating symptoms. Animal models of DMD have been instrumental in teasing out the int

SUBMITTER: Brinkmeyer-Langford C 

PROVIDER: S-EPMC3763684 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature