More than 500 disease-related mutations spanning the whole length of CAPN3 have been identified in LGMD2A so far, causing either significantly decreased expression or defective autolytic function of the calpain 3 protein.
Patients with LGMD2A typically present with pelvic-girdle weakness from childhood to young adulthood.
Supporting our findings, both “sandwich” and “target” signs are very rare in other neuromuscular disorders in the literatures, such as Duchenne muscular dystrophy,[sup], lipid metabolic myopathy,[sup] inflammatory myopathy,[sup] LGMD2A,[sup] Emery-Dreifuss muscular dystrophy,[sup],, and congenital muscular dystrophy with rigid spine syndrome (RSMD1).[sup],
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.