HIGHLIGHTS
- who: Ryanodine receptor and colleagues from the (UNIVERSITY) have published the article: In vivo RyR1 reduction in triggers core‑like myopathy, in the Journal: (JOURNAL)
- what: This model demonstrates that RyR1 reduction is sufficient to recapitulate most features of Central Core Disease and accordingly similar alterations were observed in biopsies from Dusty Core Disease patients (a subtype of Central Core Disease) pointing to common pathophysiological mechanisms related to RyR1 reduction. The authors focused on the pathophysiology of the exclusive reduction in RyR1 protein expression in muscle, as this situation is frequently observed in patients affected . . .
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