In the adult MM group, the most common pathogenic variants were BRAF V600E (39.58%) and V600K (8.33%) followed by NRAS (14.58%), NF1 (8.33%), PTEN (8.33%), BRCA2 (8.33%), and TP53 (4.17%). The gene discussed is BRCA2; the disease is Miyoshi myopathy.