LGMD2ALimb-Girdle Muscular Dystrophy Type 2A (autosomal recessive disorder)
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The 361 non-collagen VI-related myopathy cases included 166 cases of dystrophinopathies, 56 cases of inflammatory myopathy, 35 cases of neurogenic muscular atrophy, 33 cases of LGMD2B, 15 cases of congenital myopathy, 15 cases of LGMD2A, 13 cases of metabolic myopathy, 8 cases of LMNA-related myopathy, 7 cases of GNE myopathy, 5 cases of myotonic dystrophy, 3 cases of LGMD2D, 3 cases of LGMD2I, 1 case of LGMD2C, and 1 case of LGMD2Q.
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).
Mohan Viswanathan, a senior scientist at Cambria, will establish and implement a novel whole-organism screen to discover small molecule compounds that may correct the cellular dysfunction caused by mutations in the dysferlin gene that are responsible for human LGMD2A and Miyoshi Myopathy.