Article

Novel model of distal myopathy caused by the myosin rod mutation R1500P disrupts acto-myosin binding

2019-09-08

Abstract excerpt

<h4>Introduction</h4> More than 400 mutations in β-myosin, a slow myosin motor, can cause both cardiac and skeletal myopathy in humans. A small subset of these mutations, mostly located in the myosin rod, leads to a progressive skeletal muscle disease known as Laing distal myopathy (MPD1). While this disease has previously been studied using a variety of systems, it has never been studied in the mammalian muscle...

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Literature Corpus work: b500daef-1491-5089-8eb6-8c95d5b7dc6b
DOI: 10.1101/760272

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