Skip to main content
. Author manuscript; available in PMC: 2018 Jan 9.
Published in final edited form as: Muscle Nerve. 2017 Sep 22;57(1):6–15. doi: 10.1002/mus.25953

Figure 1. Schematic of significant genetic modifiers of Duchenne and Facioscapulohumeral muscular dystrophies and their sub-cellular localization in skeletal muscle.

Figure 1

Dystrophin and the dystrophin-associated protein complex (DAPC) have an important functional role in the transmission of intercellular force to the extracellular matrix (ECM). Of note, Smchd1 is a chromatin-modifier protein that is believed to allow a permissive state for transcriptional activation of the pathogenic DUX4 transcription factor in FSHD Type 2.