Article
Genetic and epigenetic determinants of low dysferlin expression in monocytes.
Human mutation - 1 Aug 2014
Gallardo Eduard, Ankala Arunkanth, Núñez-Álvarez Yaiza, Hegde Madhuri, Diaz-Manera Jordi, Luna Noemí De, Pastoret Ana, Suelves Mònica, Illa Isabel
Abstract excerpt
Dysferlinopathies are autosomal recessive inherited muscular dystrophies caused by mutations in the gene DYSF. Dysferlin is primarily expressed in skeletal muscle, cardiac muscle, and peripheral blood monocytes. Expression in skeletal muscle and monocytes strongly correlates in healthy and disease states. We evaluated the efficiency of the monocyte assay to detect carriers and to determine the carrier frequency...
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