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)