We report two Japanese patients with autosomal recessive limb-girdle muscular dystrophy type R25 (LGMDR25), harboring a novel recurrent homozygous nonsense variant of BVES. Muscle symptoms manifested from childhood to adulthood, initiated in the proximal or distal muscles of the lower limbs, and displayed asymmetric muscle involvement. Similar to the patients in previous reports, these patients also lost ambulation in late middle age. The posterior compartment of the lower limb muscles (biceps femoris, adductor magnus, gastrocnemius, and soleus) was preferentially affected as was the paraspinal muscle. Muscles in the anterior compartment of the thigh were affected in more advanced stages. Both patients had symptomatic atrioventricular block. The POPDC1 protein was undetectable in the muscles of the patients. As observed by transmission electron microscopy, one of the patient samples had fewer caveolae along the sarcolemma than a control sample.

中文翻译：

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两名日本 LGMDR25 患者患有 BVES 的双等位基因复发性无意义变异

我们报告了两名患有 R25 型常染色体隐性肢带型肌营养不良症 (LGMDR25) 的日本患者，他们患有 BVES 的新型复发性纯合无义变异。肌肉症状从儿童期到成年期出现，开始于下肢近端或远端肌肉，并表现出不对称的肌肉受累。与之前报道的患者相似，这些患者在中年后期也失去了行走能力。下肢肌肉（股二头肌、大收肌、腓肠肌和比目鱼肌）的后部肌肉优先受到影响，椎旁肌肉也是如此。大腿前部的肌肉在更晚期的阶段受到影响。两名患者均有症状性房室传导阻滞。在患者的肌肉中检测不到 POPDC1 蛋白。