Cesk Patol. 2021 Summer;57(3):150-153.
Neuromuscular diseases (NMDs) are a clinically and genetically heterogeneous group of diseases. Currently, 608 genes associated with different types of NMD have been identified. Most of these diseases are rare with a very low prevalence. Advance in the identification of genes associated with NMD can be attributed to technological development in an area of next generation sequencing (NGS) and the affordability of this methodical approach. NGS applications can be divided into analysis of (a) a selected set of genes, (b) an exom, and (c) a genome. The identification of pathogenic variants leads to a significant shift in the understanding of the etiopathogenesis of the disease, allows the prediction of the course of the disease, or its targeted treatment, which may be specific for individual types of NMD or even for particular pathogenic sequence variants.
神经肌肉疾病（NMD）是一组在临床上和遗传学上具有异质性的疾病。目前，已经确定了 608 个与不同类型的 NMD 相关的基因。这些疾病大多数都很罕见，患病率非常低。与 NMD 相关基因的鉴定的进展可以归因于下一代测序（NGS）领域的技术发展以及这种方法的可承受性。NGS 应用可以分为以下三个方面：（a）一组选定基因的分析，（b）外显子组，和（c）基因组。致病性变异的识别导致对疾病的病因发病机制的理解发生重大转变，允许对疾病的进程进行预测，或对其进行有针对性的治疗，这种治疗可能针对特定类型的 NMD，甚至可能针对特定的致病性序列变异。
