摘要SMPX(small muscle protein X-linked)基因编码一种小分子量蛋白质，主要表达于骨骼肌和心肌中，参与细胞骨架的动力学和机械应力响应。近年来， SMPX基因的错义变异被确认为一种新型X连锁远端肌病(distal myopathy 7型)的致病原因。本文通过系统总结 SMPX基因的功能、变异类型以及致病机制，结合临床分型、分子病理学证据和实验数据，揭示其通过蛋白质聚集、应激颗粒动态失调和Rac1/p38信号通路异常导致肌病的机制，并探讨了下一步的研究方向。

abstractsThe SMPX (small muscle protein X-linked) gene encodes a small-molecular-weight protein that is mainly expressed in skeletal and cardiac muscles and is involved in cytoskeletal dynamics and mechanical stress responses. In recent years, missense variants of the SMPX gene have been identified as the cause of a novel X-linked distal myopathy (Distal myopathy 7). This article has systematically reviewed the molecular functions, variant types, and pathological mechanisms of the SMPX gene by integrating its clinical classification, molecular pathological evidence, and experimental model data, and revealed its pathgenetic mechanism through protein aggregation, dynamic dysregulation of stress granules, abnormal Rac1/p38 signaling pathways, and future research directions.