导致成人发生横纹肌溶解的原因多样，其中之一为体力消耗所致，称为劳力性横纹肌溶解（exertional rhabdomyolysis，ERM）。ERM的主要表现为肌细胞被破坏，使得细胞内的内容物释放至血液中，从而引起的肌痛、深色尿、无力、血清肌酸激酶（creatine kinase，CK）和肌红蛋白升高等一系列症状。部分患者症状反复发作，持续高血清CK（大于正常上限的50倍），或出现无法解释的严重疾病表现。在许多病例中，病因尚不清楚。近来研究发现，雷诺丁受体1（ryanodine receptor 1，RYR1）基因突变可能是运动诱导ERM的病因之一。该文报道了1例表现为ERM的患者，基因检测显示为杂合RYR1基因错义变异。经过补液、改善代谢、抗氧化等治疗后，患者的临床症状及CK水平均有所改善。

The etiology of rhabdomyolysis in adults is multifaceted, with one cause being physical exertion, termed exertional rhabdomyolysis (ERM). Characterized primarily by the destruction of muscle cells, ERM results in the release of intracellular contents into the bloodstream, leading to a spectrum of symptoms, including myalgia, dark urine, weakness, and marked elevations in serum creatine kinase (CK) and myoglobin levels. Some patients experience recurrent symptoms, persistently high serum CK levels (exceeding 50 times the normal upper limit), or unexplained severe manifestations. Despite this, the underlying pathogenesis remains elusive in numerous cases. Recent studies have implicated mutations in the RYR1 gene as a potential cause of exercise-induced ERM. This report describes a patient presenting with ERM and a heterozygous RYR1 gene missense mutation. Following treatment with fluid resuscitation, metabolic optimization, and antioxidant therapy, the patient exhibited clinical and biochemical improvement.