Hereditary myopathies are a heterogeneous disorder known to be associated with more than 100 genes. Although hereditary myopathy subgroups can be partially described with traditional methods such as muscle biopsy, next-generation sequencing (NGS) is essential to reveal the disease's underlying genetic etiology and molecular mechanisms. In this study, we performed clinical exome sequencing or whole-exome sequencing (CES/WES) in 20 unrelated Turkish patients. Thirteen pathogenic or likely pathogenic variants, including five novel variantswere detected in the 16 known hereditary myopathy genes. We achieved a high rate of diagnosis (65%) compared to previous studies. The most common condition noticed was limb-girdle muscular dystrophy (LGMD), which should not be ignored in patients diagnosed with myopathy. CES or WES provides a certain molecular diagnosis from a broad perspective to demonstrate underlying genetic causes in heterogeneous disorders. Therefore, exome sequencing offers a higher and more complete diagnosis than the gene panel.

中文翻译：

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土耳其患者遗传性肌病的突变谱和新变异

遗传性肌病是一种异质性疾病，已知与 100 多个基因有关。尽管可以使用肌肉活检等传统方法部分描述遗传性肌病亚组，但下一代测序 (NGS) 对于揭示该疾病的潜在遗传病因和分子机制至关重要。在这项研究中，我们对 20 名不相关的土耳其患者进行了临床外显子组测序或全外显子组测序 (CES/WES)。在 16 个已知的遗传性肌病基因中检测到 13 个致病性或可能致病性变异，包括 5 个新变异。与之前的研究相比，我们实现了高诊断率 (65%)。最常见的病症是肢带型肌营养不良症 (LGMD)，在诊断为肌病的患者中不应忽视这一点。CES 或 WES 从广泛的角度提供了某种分子诊断，以证明异质性疾病的潜在遗传原因。因此，外显子组测序提供了比基因面板更高、更完整的诊断。