Autosomal-recessive mutations in SPEG (striated muscle preferentially expressed protein kinase) have been linked to centronuclear myopathy with or without dilated cardiomyopathy (CNM5). Loss of SPEG is associated with defective triad formation, abnormal excitation–contraction coupling, calcium mishandling and disruption of the focal adhesion complex in skeletal muscles. To elucidate the underlying molecular pathways, we have utilized multi-omics tools and analysis to obtain a comprehensive view of the complex biological processes and molecular functions.

中文翻译：

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综合多组学方法揭示了横纹肌优先表达蛋白激酶在骨骼肌中的作用，包括其与 Myospryn 复合物的关系


SPEG（横纹肌优先表达蛋白激酶）的常染色体隐性突变与伴或不伴扩张型心肌病 (CNM5) 的中心核肌病有关。 SPEG 的缺失与三联体形成缺陷、异常兴奋-收缩耦合、钙处理不当和骨骼肌粘着斑复合物破坏有关。为了阐明潜在的分子途径，我们利用多组学工具和分析来全面了解复杂的生物过程和分子功能。