Figure 2 Pathophysiological mechanisms in LGMD

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Table 3 Limb-girdle muscular dystrophy standardized data collection form and HPO mapping Thompson, R. & Straub, V. et al. (2016) Limb-girdle muscular dystrophies.
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Figure 2 Pathophysiological mechanisms in LGMD Figure 2 | Pathophysiological mechanisms in LGMD. The various forms of LGMD do not share a common pathophysiological mechanism. Depending on the specific protein function that is defective, different pathways and subcellular structures can be involved, including the dystrophin–glycoprotein complex, the sarcomere, glycosylation of dystroglycan, vesicle and molecular trafficking, signal transduction pathways, and nuclear functions. Some of the proteins that are relevant to LGMD can be involved in several pathways and, in this figure, structures and diseases have been assigned to pathophysiological categories on the basis of generic concepts. LGMD, limb-girdle muscular dystrophy. Thompson, R. & Straub, V. et al. (2016) Limb-girdle muscular dystrophies — international collaborations for translational research Nat. Rev. Neurol. doi:10.1038/nrneurol.2016.35