由于BVES的功能丧失突变，R25型肢体肌营养不良（LGMDR25）是一种罕见的遗传性疾病，以进行性近端下肢无力和房室传导阻滞为特征。在这里，我们报道了一个患有LGMDR25的年轻中国男子，他表现出下肢不对称无力，肌痛，劳累时心悸和呼吸困难。肌肉成像显示股二头肌长头脂肪浸润，内收肌magnus,腓肠肌和比目鱼肌,以及半腱肌和股四头肌的肌水肿，保留股直肌。心电图仅显示轻度窦性心动过速，但肺功能检查提示明显的呼吸肌无力。我们的报告扩展了表型谱，并指出了监测LGMDR25患者呼吸功能的重要性。
Limb girdle muscular dystrophy type R25 (LGMDR25) is a rare genetic disorder due to loss-of-function mutations in
BVES, characterized by progressive proximal lower limb weakness and atrioventricular block. Here we report a young Chinese man with LGMDR25 who presented with asymmetrical lower limb weakness, myalgia, palpitations and dyspnea on exertion. Muscle imaging demonstrated fatty infiltration of the long head of biceps femoris, adductor magnus, gastrocnemius and soleus, and myoedema of semitendinosus and quadriceps, sparing rectus femoris. ECG showed only mild sinus tachycardia but pulmonary function test suggested prominent respiratory muscle weakness. Our report expands the phenotypical spectrum and indicates the importance of monitoring respiratory function in LGMDR25 patients.
