LGMD2ALimb-Girdle Muscular Dystrophy Type 2A (autosomal recessive disorder)
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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][10],[22] lipid metabolic myopathy,[sup][23] inflammatory myopathy,[sup][8] LGMD2A,[sup][24] Emery-Dreifuss muscular dystrophy,[sup][25],[26],[27] and congenital muscular dystrophy with rigid spine syndrome (RSMD1).[sup][17],[28]
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.