Biallelic loss‐of‐function MEGF10 mutations lead to MEGF10 myopathy, also known as early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD). MEGF10 is expressed in muscle satellite cells, but the contribution of satellite cell dysfunction to MEGF10 myopathy is unclear. Myofibers and satellite cells were isolated and examined from Megf10^−/− and wild‐type mice. A separate set of mice underwent repeated intramuscular barium chloride injections. Megf10^−/− muscle satellite cells showed reduced proliferation and migration, while Megf10^−/− mouse skeletal muscles showed impaired regeneration. Megf10 deficiency is associated with impaired muscle regeneration, due in part to defects in satellite cell function. Efforts to rescue Megf10 deficiency will have therapeutic implications for MEGF10 myopathy and other inherited muscle diseases involving impaired muscle regeneration.

中文翻译：

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Megf10 缺乏会损害骨骼肌干细胞迁移和肌肉再生

双等位基因功能丧失 MEGF10突变导致 MEGF10 肌病，也称为早发性肌病伴反射消失、呼吸窘迫和吞咽困难 (EMARDD)。MEGF10 在肌肉卫星细胞中表达，但卫星细胞功能障碍对 MEGF10 肌病的影响尚不清楚。从Megf10 ^-/-和野生型小鼠中分离和检查肌纤维和卫星细胞。另一组小鼠重复肌内注射氯化钡。Megf10 ^-/-肌肉卫星细胞增殖和迁移减少，而Megf10 ^-/-小鼠骨骼肌显示再生受损。Megf10 缺乏与肌肉再生受损有关，部分原因是卫星细胞功能缺陷。拯救 Megf10 缺乏症的努力将对 MEGF10 肌病和其他涉及肌肉再生受损的遗传性肌肉疾病产生治疗意义。