Key result
A novel dysferlin splice variant lacking exon 17 (Delta17) inversely correlates with muscle differentiation and is the predominant dysferlin variant in mature peripheral nerve.
Population
Human primary myogenic cells, myoblasts, myotubes, normal skeletal muscle, and mature peripheral nerve
Design
Preclinical
Authors
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No immediate clinical implications from this animal model; leaves open tissue-specific roles of Delta17 in human dysferlinopathies.
A novel dysferlin splice variant lacking exon 17 (Delta17) is expressed in early myogenic differentiation and mature peripheral nerves, suggesting distinct tissue-specific roles.
Salani et al. (2004) studied Limb-girdle muscular dystrophy type 2B and distal myopathies. Dysferlin expression analysis (Delta17 isoform) was evaluated on Pattern of dysferlin expression during myogenic cell differentiation. A novel dysferlin splice variant lacking exon 17 (Delta17) inversely correlates with muscle differentiation and is the predominant dysferlin variant in mature peripheral nerve.
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