Fig. 2

A genomic deletion detected in patients with contracted D4Z4 repeats. A Representative data showing reads obtained from Sample 13 mapped using Integrative Genomics Viewer. Among five reads (No. 1–5) with three repeat units (RUs) (11 kb), four reads (No. 1–4) with no deletion and one read (No. 5) with a 1.3 kb deletion were obtained. B The deletion was localized downstream of p13E-11 and extended to the middle of the most proximal D4Z4 RU