ERCC4 and Miyoshi myopathy: This identified a ClinVar-annotated pathogenic, missense SNV in ERCC4 (p.Arg799Trp) in one early-onset MM case and one sporadic MM case, and a stop-gain SNV in ERCC3 (p.Arg574Ter), in the same domain as a ClinVar-annotated pathogenic variant, in a second early-onset MM case (S4 Table).