■RVM是一组遗传异质性疾病,具有肌肉活检的组织病理学特征,包括自噬液泡的异常积累。然而,非编码序列和结构突变的存在,其中一些仍然无法检测到,混淆了负责RVM的致病性突变的鉴定。因此,我们评估了36例中国RVM患者的临床特征和肌肉磁共振成像(MRI)变化,强调肌肉MRI在疾病识别和鉴别诊断中的作用,以提出基于文献的全面成像模式,以促进改进的诊断工作。
■所有患者均表现为边缘空泡,伴有不同程度的肌肉营养不良改变,并接受了临床综合评估,形态学,肌肉MRI和分子遗传学分析。我们评估了中国RVM的肌肉变化,并提供了RVM的概述,关注MRI上肌肉受累的模式。
■总共36名患者,包括24例确诊的远端肌病和12例有肢带表型,根据远端或近端下肢的主要作用,对患者进行分层聚类显示,大多数RVM患者可以区分。GNE肌病是本研究中观察到的最普遍的RVM形式。此外,MRI有助于识别某些疾病的致病基因(例如,肾病和遗传性肌病伴早期呼吸衰竭),并证实了一种新突变的致病性(例如,成人发病的近端有边缘的空泡肌病)使用下一代测序检测到。
■集体,我们的研究结果扩大了我们对中国RVM遗传谱的认识,提示在RVM的诊断检查中,肌肉成像应该是协助基因检测和避免误诊的一个重要组成部分.
UNASSIGNED: Rimmed vacuolar myopathies (RVMs) are a group of genetically heterogeneous diseases that share histopathological characteristics on muscle biopsy, including the aberrant accumulation of autophagic vacuoles. However, the presence of non-coding sequences and structural mutations, some of which remain undetectable, confound the identification of pathogenic mutations responsible for RVMs. Therefore, we assessed the clinical profiles and muscle magnetic resonance imaging (MRI) changes in 36 Chinese patients with RVMs, emphasizing the role of muscle MRI in disease identification and differential diagnosis to propose a comprehensive literature-based imaging pattern to facilitate improved diagnostic workup.
UNASSIGNED: All patients presented with rimmed vacuoles with varying degrees of muscular dystrophic changes and underwent a comprehensive evaluation using clinical, morphological, muscle MRI and molecular genetic analysis. We assessed muscle changes in the Chinese RVMs and provided an overview of the RVMs, focusing on the patterns of muscle involvement on MRI.
UNASSIGNED: A total of 36 patients, including 24 with confirmed distal myopathy and 12 with limb-girdle phenotype, had autophagic vacuoles with RVMs. Hierarchical clustering of patients according to the predominant effect of the distal or proximal lower limbs revealed that most patients with RVMs could be distinguished. GNE myopathy was the most prevalent form of RVMs observed in this study. Moreover, MRI helped identify the causative genes in some diseases (e.g., desminopathy and hereditary myopathy with early respiratory failure) and confirmed the pathogenicity of a novel mutation (e.g., adult-onset proximal rimmed vacuolar titinopathy) detected using next-generation sequencing.
UNASSIGNED: Collectively, our findings expand our knowledge of the genetic spectrum of RVMs in China and suggest that muscle imaging should be an integral part of assisting genetic testing and avoiding misdiagnosis in the diagnostic workup of RVM.