【摘要】 目的 量化对比腓骨肌萎缩症（CMT）1A与CMT2的山梨醇脱氢酶（SORD）基因/线粒体融合2基因（Mitofusin2,MFN2）突变亚型患者下肢肌肉脂肪浸润分布及程度的差异，评估其与临床功能评分及肌力指标之间的相关性。方法 纳入34例CMT1A、25例CMT2患者及10名健康对照。采用3T MRI Dixon技术量化小腿肌肉脂肪分数，分析其与CMTNSv2评分、肌力的相关性。结果 CMT1A组表现出从近端到远端脂肪分数显著递增的趋势（远端40.5%vs近端27.6%,P<0.05），该分布在CMT2组中未出现。MFN2突变组比目鱼肌脂肪分数（54.7%）显著高于PMP22组（23.5%,P=0.039）。CMT1A和CMT2肌肉脂肪分数均与功能评分、肌力显著相关。结论 CMT1A及CMT2肌肉脂肪浸润模式存在明显差异。脂肪分数与疾病严重程度和功能损害具有显著相关性。将MRI量化脂肪分数作为客观、敏感的生物标志物用于CMT疾病进展的检测和亚型鉴别中，可提供更多证据。更多还原

【Abstract】 Objective To quantify and compare the differences in the distribution and extent of lower limb muscle fat infiltration between patients with Charcot-Marie-Tooth disease(CMT) 1A and CMT2 subtypes(specifically those with Sorbitol dehydrogenase(SORD) gene or Mitofusin 2(MFN2) gene mutations),and to evaluate the correlation between fat infiltration and clinical functional scores as well as muscle strength indicators.Methods A total of 34 CMT1A patients,25 CMT2 patients,and 10 healthy controls were enrolled.The fat fraction(FF) of calf muscles was quantified using 3T MRI Dixon water-fat separation technique,and its correlation with CMTNSv2 scores and muscle strength was analyzed.Results The CMT1A group showed a significant increasing trend in fat fraction from the proximal to the distal lower limbs(distal 40.5% vs.proximal 27.6%,P<0.05),which was not observed in the CMT2 group.The soleus muscle fat fraction in the MFN2 mutation group(54.7%) was significantly higher than that in the PMP22 group(23.5%,P=0.039).Muscle fat fraction was significantly correlated with functional scores and muscle strength in both CMT1A and CMT2 groups.Conclusion There are significant differences in muscle fat infiltration patterns between CMT1A and CMT2.Fat fraction is significantly correlated with disease severity and functional impairment.This study supports the use of MRI-quantified fat fraction as an objective and sensitive biomarker for monitoring CMT disease progression and differentiating subtypes.更多还原