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Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching

The common null polymorphism (R577X) in the ACTN3 gene is present in over 1.5 billion people worldwide and results in the absence of the protein α-actinin-3 from the Z-discs of fast-twitch skeletal muscle fibres. We have previously reported that this polymorphism is a modifier of dystrophin-deficien...

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Detalles Bibliográficos
Autores principales: Kiriaev, Leonit, Houweling, Peter J, North, Kathryn N, Head, Stewart I
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9071495/
https://www.ncbi.nlm.nih.gov/pubmed/34761268
http://dx.doi.org/10.1093/hmg/ddab326