Article
Potassium dependent rescue of a myopathy with core-like structures in mouse.
eLife - 7 Jan 2015
Hanson M Gartz, Wilde Jonathan J, Moreno Rosa L, Minic Angela D, Niswander Lee
Abstract excerpt
Myopathies decrease muscle functionality. Mutations in ryanodine receptor 1 (RyR1) are often associated with myopathies with microscopic core-like structures in the muscle fiber. In this study, we identify a mouse RyR1 model in which heterozygous animals display clinical and pathological hallmarks of myopathy with core-like structures. The RyR1 mutation decreases sensitivity to activated calcium release and...
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