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Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

4 May 2020

Abstract excerpt

Myotubular myopathy, also called X-linked centronuclear myopathy (XL-CNM), is a severe congenital disease targeted for therapeutic trials. To date, biomarkers to monitor disease progression and therapy efficacy are lacking. The Mtm1 −/y mouse is a faithful model for XL-CNM, due to myotubularin 1 ( MTM1 ) loss-of-function mutations. Using both an unbiased approach (RNA sequencing [RNA-seq]) and a directed approach...

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PMID: 32514412
DOI: 10.1016/j.omtm.2020.04.022

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