A mutation found in LOC126862115, CAPN3 (BRD4-independent group 4 enhancer GRCh37_chr15:42677734-42678933| calpain 3) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy