In vivo and in vitro investigations of heterozygous nebulin knock-out mice reveal similarities with mild human form of nemaline myopathy [miRNA]

In the present study, we used a multimodal approach including protein and gene expression analysis and combined in vivo and in vitro measurements of force production. Overall, we aimed at investigating the functional impact of the expression of a single nebulin allele. Comparison of the miRNA expression profile of quadriceps in 3 nebulin wild type mice with 3 nebulin heterozygous mice.本研究采用多模态研究策略，涵盖蛋白质与基因表达分析，并结合了体内（in vivo）与体外（in vitro）的肌力产生检测实验。本研究旨在探究单一伴肌动蛋白（nebulin）等位基因表达对机体功能的影响。我们对3只伴肌动蛋白野生型小鼠与3只伴肌动蛋白杂合子小鼠的股四头肌微小RNA（miRNA）表达谱进行了对比分析。