Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy
N. Yoshioka, M. Kurose, M. Yano, D. M. Tran, S. Okuda, Y. Mori-Ochiai, M. Horie, T. Nagai, I. Nishino, S. Shibata, H. Takebayashi
This study identifies a Dst-b mutation causing late-onset myopathy and cardiomyopathy in mice, revealing its critical role in striated muscle maintenance.
bioRxiv · Mar 17, 2022Pathology