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The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

23 Nov 2021

Abstract excerpt

Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is a transmembrane protein involved in several muscle functions like T-tubule maintenance and membrane repair. In 2009, a study showed the existence of fourteen dysferlin transcripts generated from alternative splicing. We were interested in dysferlin transcripts...

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PMID: 34888307
DOI: 10.3389/fcell.2021.754555

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