Article
Developmental and tissue-specific regulation of a novel dysferlin isoform.
Muscle & nerve - 1 Sept 2004
Salani Sabrina, Lucchiari Sabrina, Fortunato Francesco, Crimi Marco, Corti Stefania, Locatelli Federica, Bossolasco Patrizia, Bresolin Nereo, Comi Giacomo Pietro
Abstract excerpt
Dysferlin plays an essential role in the muscle repair machinery, and its deficiency is associated with limb-girdle muscular dystrophy type 2B and with two different distal myopathies (Miyoshi myopathy and distal anterior compartment myopathy). Our aims were to characterize the pattern of dysferlin expression during myogenic cell differentiation and to assess possible differentially spliced isoforms of the DYSF...
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