Core myopathies are clinically, pathologically, and genetically heterogeneous muscle diseases. Their onset and clinical severity are variable. Core myopathies are diagnosed by muscle biopsy showing focally reduced oxidative enzyme activity and can be pathologically divided into central core disease, multiminicore disease, dusty core disease, and core-rod myopathy. Although RYR1-related myopathy is the most common core myopathy, an increasing number of other causative genes have been reported, including SELENON, MYH2, MYH7, TTN, CCDC78, UNC45B, ACTN2, MEGF10, CFL2, KBTBD13, and TRIP4. Furthermore, the genes originally reported to cause nemaline myopathy, namely ACTA1, NEB, and TNNT1, have been recently associated with core-rod myopathy. Genetic analysis allows us to diagnose each core myopathy more accurately. In this review, we aim to provide up-to-date information about core myopathies.

核心肌病是临床、病理和遗传异质性肌肉疾病。它们的发病和临床严重程度是可变的。核心肌病通过肌肉活检诊断，显示局部氧化酶活性降低，在病理学上可分为中央核心病、多小核心病、尘埃核心病和核心杆肌病。尽管RYR1相关肌病是最常见的核心肌病，但也有越来越多的其他致病基因被报道，包括SELENON、MYH2、MYH7、TTN、CCDC78、UNC45B、ACTN2、MEGF10、CFL2、KBTBD13和TRIP4。此外，最初报道的导致线虫肌病的基因，即ACTA1、NEB和TNNT1，最近与核心杆肌病有关。遗传分析使我们能够更准确地诊断每种核心肌病。在这篇综述中，我们旨在提供有关核心肌病的最新信息。