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肌营养不良:肌肉废墟下的基因密码 —— 从分子缺陷到再生医学的 ...
肢带型肌营养不良(LGMD)多为隐性遗传,如 LGMD2I 由 FKRP 基因突变导致 α-dystroglycan 糖基化异常,肌肉与基底膜连接减弱。 创新发现:2024 年《Cell》子刊报道,部分肌营养不良患者存在线粒体 DNA 与核基因的交互突变,线粒体能量代谢障碍加剧肌肉损伤,提示「 ...
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