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

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 fourt...

Ausführliche Beschreibung

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Bibliografische Detailangaben
Hauptverfasser: Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay, Svetlana Gorokhova, Mathieu Cerino, Martin Krahn, Nicolas Lévy, Marc Bartoli
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2021-11-01
Schriftenreihe:Frontiers in Cell and Developmental Biology
Schlagworte:
Online-Zugang:https://www.frontiersin.org/articles/10.3389/fcell.2021.754555/full
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