编辑推荐：
肢带型肌营养不良（LGMD）遗传异质性高，为明确伊朗患者基因突变谱，研究人员利用全外显子测序（WES）分析 48 例患者。发现 CAPN3、LAMA2 基因突变频率最高，还鉴定出 8 个新变异，为遗传咨询和精准诊疗提供依据。
肌营养不良症是一类严重威胁人类健康的遗传性肌肉疾病，其中肢带型肌营养不良（Limb-Girdle Muscular Dystrophies, LGMD）因其复杂的遗传机制和临床表现，长期以来一直是医学研究的难点。LGMD 主要影响近端骨骼肌，具有高度的遗传异质性，其致病基因涵盖多个亚细胞区域（如细胞核、肌节、肌膜等）的编码蛋白基因，且遗传方式包括常染色体显性和隐性遗传。目前，全球范围内不同人群的 LGMD 基因突变谱差异显著，而伊朗人群中相关数据较为有限，严重制约了该地区的遗传咨询和精准诊疗工作。
为填补这一研究空白，来自伊朗德黑兰沙希德贝赫什提医科大学（Shahid Beheshti University of Medical Sciences）的研究团队开展了一项针对伊朗 LGMD 患者的基因突变谱研究。该研究成果发表在《Human Genomics》上，通过系统性分析伊朗患者的致病基因分布及变异特征，为理解 LGMD 的遗传基础和临床应用提供了重要数据支持。
研究人员选取了 2018-2024 年间转诊至德黑兰综合基因组中心的 48 例 LGMD 患者作为研究对象，所有患者均通过临床症状、生化检测（如肌酸磷酸激酶 CPK 升高）和肌电图（EMG）确诊。研究采用全外显子测序（Whole Exome Sequencing, WES）技术对患者基因组 DNA 进行分析，结合生物信息学工具（如 ANNOVAR）进行变异注释和功能预测，并通过 Sanger 测序验证关键变异，部分家族还进行了 segregation analysis（ segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation 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segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis， segregation analysis，
