Additional file 1: of Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Clinical presentations and phenotypes of the 27 MYO-SEQ index cases with suspected pathogenic variants in genes associated with dystroglycanopathies. Muscle pathology findings are defined as a replacement of muscle with fat on T1-weighted axial images. Radiology reports from referring centres are not standardised or quantitative. FVC = forced vital capacity; LVEF = left ventricular ejection fraction; LVFS = left ventricular fractional shortening; RNS = repetitive nerve stimulation. No indications = immunostaining was performed but was not suggestive of an α-DG deficiency. (XLSX 14 kb)

本数据集收录27例疑似携带与肌营养不良蛋白聚糖病（dystroglycanopathies）相关基因致病性变异的MYO-SEQ索引病例的临床表现及表型特征。肌肉病理学检查结果的判定标准为：在T1加权轴位磁共振图像上可见肌肉组织被脂肪组织替代。转诊中心出具的放射学报告未经过标准化处理，亦无定量检测数据。相关缩写释义如下：FVC=用力肺活量（forced vital capacity）；LVEF=左心室射血分数（left ventricular ejection fraction）；LVFS=左心室短轴缩短率（left ventricular fractional shortening）；RNS=重复神经电刺激（repetitive nerve stimulation）。无提示性结果：指已完成免疫染色检测，但未提示存在α-肌营养不良蛋白聚糖（α-dystroglycan, α-DG）缺乏。（XLSX格式，文件大小14 KB）