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首页> 外文期刊>Neuromuscular disorders: NMD >Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy.
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Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy.

机译：嗜酸性肌炎表现为γ-肌糖蛋白病的症状。

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The patient reported here presented with first symptoms at the age of 10 showing an abnormal gait, calf hypertrophy and winged scapulae. She was diagnosed with eosinophilic myositis after muscle biopsy. A second muscle biopsy at the age of 20 and subsequent genetic testing, however, revealed the underlying condition of a primary gamma-sarcoglycanopathy, or LGMD2C. To our knowledge, this is the first LGMD2C patient reported who initially presented with eosinophilic myositis. Eosinophilia has been reported previously in patients with Calpainopathy and Becker Muscular Dystrophy and might be an early, but transient feature of a wider range of muscular dystrophies.
机译：此处报道的患者在10岁时出现了最初的症状，表现出步态异常，小腿肥大和有翼肩骨。肌肉活检后被诊断为嗜酸性肌炎。然而，在20岁时进行了第二次肌肉活检以及随后的基因测试，揭示了原发性γ-糖聚糖病或LGMD2C的潜在状况。据我们所知，这是第一例首次报告患有嗜酸性粒细胞性肌炎的LGMD2C患者。嗜酸粒细胞增多症以前在钙蛋白酶病和贝克尔肌营养不良症患者中已有报道，可能是更广泛的肌营养不良的早期但短暂的特征。

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