Clinical exome analysis was performed for late-onset Gitelman syndrome, which incidentally revealed a germline heterozygous mutation in CAPN3 (CAPN3(NM_000070.3):c.1466G > A; p.(Arg489Gln)) responsible for autosomal dominant limb girdle muscular dystrophy. Here, CAPN3 is linked to Autosomal dominant limb-girdle muscular dystrophy.