For example patient WES32 presented with adult onset proximal weakness with CK >1000 iu/L and was therefore considered to have an LGMD, but actually had disease due to LAMA2 mutations (Additional file 1: Table S1), more usually associated with congenital muscular dystrophy. The gene discussed is LAMA2; the disease is congenital muscular dystrophy due to LMNA mutation.