Saito Yoshihiko, Nishino Ichizo
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.
J Hum Genet. 2025 Aug 26. doi: 10.1038/s10038-025-01391-5.
In recent years, whole-exome and whole-genome sequencing have been increasingly applied for the genetic diagnosis of muscle diseases. However, standard short-read sequencing often fails to detect pathogenic variants in some inherited muscle diseases, such as Duchenne/Becker muscular dystrophy (DMD/BMD), facioscapulohumeral muscular dystrophy (FSHD), oculopharyngeal muscular dystrophy (OPMD), and oculopharyngodistal myopathy (OPDM). This review outlines the genetic diagnostic approaches for these conditions, with a particular focus on novel analytical approaches for genetic diagnosis.
近年来，全外显子组测序和全基因组测序越来越多地应用于肌肉疾病的基因诊断。然而，标准的短读长测序在某些遗传性肌肉疾病中常常无法检测到致病变异，如杜氏/贝克型肌营养不良症（DMD/BMD）、面肩肱型肌营养不良症（FSHD）、眼咽型肌营养不良症（OPMD）和眼咽远端型肌病（OPDM）。本综述概述了这些疾病的基因诊断方法，特别关注基因诊断的新型分析方法。
