ScCNV-seq and bulk WGS on bone marrow CD138+ MM cells at relapse demonstrated a monoallelic focal loss of TNFRSF17 coupled with a clonal missense mutation in exon 1 of TNFRSF17 c.80G>C (p.Arg27Pro) (Fig. 3c–e). This evidence concerns the gene SDC1 and Miyoshi myopathy.