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...
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Autores principales: | Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay, Svetlana Gorokhova, Mathieu Cerino, Martin Krahn, Nicolas Lévy, Marc Bartoli |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/b3937897f7ae4ee98dbe79ca78dc88c3 |
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