SPEG and Skeletal myopathy: Alterations in other proteins involved in triad formation and maintenance, including caveolin-3 (CAV3), amphiphysin-1 (BIN1), dysferlin (DYSF), myotubularin (MTM1), and striated muscle preferentially expressed protein kinase (SPEG), have also been linked to skeletal myopathy phenotypes in patients and rodent models (118, 132, 229).