LGMD2BLimb-girdle muscular dystrophy type 2B
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Forty-five patients presented with LGMD2B, 31 with MM, 7 with PDM, and 6 were clinically asymptomatic and diagnosed with hyperCKemia.
Professor Muntoni informed that preclinical studies in myotonic dystrophy are also rapidly advancing, followed by also attempts to utilise antisense oligomers in other, less common muscular dystrophy variants, for example in LGMD2B.
LGMD2B is a recessive genetic disease caused by a toxic loss of function in the dysferlin gene.
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.