In consideration of the atypical FSHD phenotype, a genomic exon DNA testing (performed at Shenzhen Angenomics Medical Testing Laboratory) revealed a heterozygous deletion of exons 13–29 in the proband’s DMD gene (Supplementary Figure 3), while qPCR verification analysis of the DMD gene in other family members showed that maternal grandmother, mother, maternal aunt, and cousin had a heterozygous deletion at the same site in the DMD gene, and no deletions were observed in the DMD gene exon 13–29 testing of maternal grandfather, father, and maternal uncle (Supplementary Figure 4). Here, DMD is linked to facioscapulohumeral muscular dystrophy.