Department of Neuromuscular Research, National Center of Neurology and Psychiatry (NCNP), National Institute of Neuroscience, 4-1-1 Ogawahigashi, Tokyo 187-8502, Japan; Medical Genome Center, NCNP, Tokyo, Kodaira, Japan; Department of Pediatrics, Showa General Hospital, Tokyo, Kodaira, Japan.
Department of Neuromuscular Research, National Center of Neurology and Psychiatry (NCNP), National Institute of Neuroscience, 4-1-1 Ogawahigashi, Tokyo 187-8502, Japan; Medical Genome Center, NCNP, Tokyo, Kodaira, Japan.
Neuromuscul Disord. 2021 Oct;31(10):968-977. doi: 10.1016/j.nmd.2021.08.015. Epub 2021 Sep 17.
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.
核心型肌病是一组具有临床、病理和遗传学异质性的肌肉疾病。其起病和临床严重程度不一。核心型肌病的诊断依据是肌肉活检显示局灶性氧化酶活性降低，并可通过病理分为中央核心病、多发性肌膜核病、尘核病和核心-杆状体肌病。虽然 RYR1 相关性肌病是最常见的核心型肌病，但越来越多的其他致病基因已被报道，包括 SELENON、MYH2、MYH7、TTN、CCDC78、UNC45B、ACTN2、MEGF10、CFL2、KBTBD13 和 TRIP4。此外，最初被报道导致杆状体肌病的基因，即 ACTA1、NEB 和 TNNT1，最近也与核心-杆状体肌病相关。基因分析可使我们更准确地诊断每种核心型肌病。在这篇综述中，我们旨在提供有关核心型肌病的最新信息。
