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Genetic Modifiers of Duchenne and Facioscapulohumeral Muscular Dystrophies

  • Journal Review by Rylie M. Hightower, BSN and Matthew S. Alexander, PhD

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  • Language: English
  • Published: 12/1/2017
  • Description: Free CME for Members! Muscular dystrophy (MD) is defined as the progressive wasting of skeletal muscles caused by inherited or spontaneous genetic mutations. Next-generation sequencing has greatly improved the accuracy and speed of diagnosis for different types of MD. Advancements have led to the identification of genetic modifiers that are responsible for phenotypic variability in affected patients. These genetic modifiers have been postulated to explain key differences in disease phenotypes, including age of loss of ambulation, steroid responsiveness, and the presence or absence of cardiac defects in patients with the same form of MD. This review highlights recent findings on genetic modifiers of Duchenne and facioscapulohumeral MDs based on animal and clinical studies.

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    ACCREDITATION STATEMENT
    The AANEM is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
    CREDIT DESIGNATION
    The AANEM designates this enduring material for a maximum of 2 AMA PRA Category 1 Credits TM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Credit expires 12/31/2020.
    DISCLOSURE INFORMATION
    Dr. Amy Visser is a consultant for Alexion Pharmaceuticals Advisory Board. Any conflicts of interest have been resolved according to ACCME standards. All other planners of this activity had nothing to disclose. Any author conflicts of interest have been resolved by the Journal in accordance with the Muscle & Nerve editorial process.
    FORMAT: PDF

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