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Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation

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Fukutin-related protein (FKRP) mutations cause a broad spectrum of muscular dystrophies, from a relatively mild limb-girdle muscular dystrophy type 9 (LGMDR9) to severe congenital muscular dystrophy (CMD). This study aims to report two siblings belonging to a ... ...