Glycogen storage disease type XV (GSD XV) is a recently described muscle glycogenosis due to glycogenin-1 (GYG1) deficiency characterized by the presence of polyglucosan bodies on muscle biopsy (Polyglucosan body myopathy-2, PGBM2). Here we describe a 44 year-old man with limb-girdle muscle weakness mimicking a limb-girdle muscular dystrophy (LGMD), and early onset exertional myalgia. Neurologic examination revealed a waddling gait with hyperlordosis, bilateral asymmetric scapular winging, mild asymmetric deltoid and biceps brachii weakness, and pelvic-girdle weakness involving the gluteal muscles and, to a lesser extent, the quadriceps. Serum creatine kinase levels were slightly elevated. Electrophysiological examination showed a myopathic pattern. There was no cardiac or respiratory involvement. Whole-body muscle MRI revealed atrophy and fat replacement of the tongue, biceps brachii, pelvic girdle and erector spinae. A deltoid muscle biopsy showed the presence of PAS-positive inclusions that remained non-digested with alpha-amylase treatment. Electron microscopy studies confirmed the presence of polyglucosan bodies. A diagnostic gene panel designed by the Genetic Diagnosis Laboratory of Strasbourg University Hospital (France) for 210 muscular disorders genes disclosed two heterozygous, pathogenic GYG1 gene mutations (c.304G>C;p.(Asp102His) + c.164_165del).

Considering the clinical heterogeneity found in the previously described 38 GYG-1 deficient patients, we suggest that GYG1 should be systematically included in targeted NGS gene panels for LGMDs, distal myopathies, and metabolic myopathies.

糖原贮积病XV型（GSD XV）是最近描述的由于糖原蛋白1（GYG1）缺乏引起的肌肉糖原异生，其特征是在肌肉活检中存在聚葡聚糖体（Polyglucosan body myopathy-2，PGBM2））。在这里，我们描述了一个44岁的男子，他的肢带肌肉无力，模仿了肢带肌肉萎缩症（LGMD），并有较早发作的劳累性肌痛。神经系统检查显示步态蹒跚，伴有高位病，双侧不对称肩cap翼，轻度不对称三角肌和肱二头肌肱肌无力，以及涉及臀肌和股四头肌的骨盆带无力。血清肌酸激酶水平略有升高。电生理检查显示肌病模式。没有心脏或呼吸器官受累。全身肌肉MRI显示舌头，肱二头肌，骨盆带和竖脊肌萎缩和脂肪置换。三角肌活检显示存在PAS阳性包涵体，但经α-淀粉酶处理仍未消化。电子显微镜研究证实了聚葡聚糖体的存在。法国斯特拉斯堡大学医院遗传诊断实验室针对210种肌肉疾病基因设计的诊断基因组，揭示了两种杂合的致病性GYG1基因突变（c.304G> C; p。（Asp102His）+ c.164_165del）。

考虑到先前描述的38名GYG-1缺陷患者的临床异质性，我们建议GYG1应该系统地纳入LGMD，远端肌病和代谢性肌病的靶向NGS基因组中。