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Mutations in the Fukutin-related protein gene (FKRP) lead to a alpha-dystroglycanopathy, a genetically heterogeneous group of muscular dystrophies associated with a wide range of phenotypes, from a mild Limb-Girdle Muscular Dystrophy (LGMD2I) to a severe congenital muscular dystrophy (CMD) with brain involvement. The aim of this study was to reinforce the scarce data associated with the uncommon c...
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