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- W2493082011 abstract "The limb-girdle muscular dystrophies (LGMDs) encompass a collection of genetic muscle diseases with proximal-predominant weakness of the limbs. Thirty-two of these disorders are named via the common nomenclature, including 8 autosomal-dominant (LGMD1A-H) and 24 autosomal-recessive (LGMD2A-X) disorders.<sup>1</sup> In addition, numerous other genetic muscle diseases, including Bethlem myopathy, dystrophinopathies, ryanodine receptor–associated myopathies, and many more, may clinically present with similar proximal-predominant weakness.<sup>2</sup> Therefore, current genetic testing panels targeting neuromuscular weakness frequently encompass >75 genes. These disorders are quite rare, each with minimum prevalence estimates of 0.01–0.60 cases per 100,000 persons.<sup>3</sup> LGMD2A (attributable to mutations in the gene for calpain-3) and LGMD2B (attributable to mutations in the gene for dysferlin) consistently are the 2 most prevalent LGMD subtypes in a variety of ethnic cohorts." @default.
- W2493082011 created "2016-08-23" @default.
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- W2493082011 date "2016-08-01" @default.
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- W2493082011 title "Rare disease clinical trials" @default.
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- W2493082011 doi "https://doi.org/10.1212/nxg.0000000000000092" @default.
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