Recent studies indicate that MM have significant genomic instability and display structural variants including amplifications (e.g., CDK4, MDM2, TERT, and cyclin D1), deletions (e.g., CDKN2A/B, PTEN and TP53) and fusion genes [10, 13, 14] displaying a site-specific variation [13, 15]. This evidence concerns the gene CDKN2A and Miyoshi myopathy.