Invited Review Article for Submission to Muscle and Nerve “Genetic Modifiers of Duchenne and Facioscapulohumeral Muscular Dystrophies”.
Muscle Nerve. 2017 Sep 06;:
Authors: Hightower RM, Alexander MS
Muscular dystrophy is defined as the progressive wasting of skeletal muscles that is caused by inherited or spontaneous genetic mutations. Next-generation sequencing (NGS) has greatly improved the accuracy and speed of diagnosis for different types of muscular dystrophy. Advancements in depth of coverage, convenience, and overall reduced cost, 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 muscular dystrophy. Here we review and highlight recent findings on genetic modifiers of Duchenne and Facioscapulohumeral muscular dystrophies based on animal and clinical studies. These genetic modifiers hold great promise to be developed into novel therapeutic targets for the treatment of muscular dystrophies. This article is protected by copyright. All rights reserved.
PMID: 28877560 [PubMed – as supplied by publisher]