Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy

X-linked myotubular myopathy (XLMTM) is a fatal congenital disorder caused by mutations in the MTM1 gene. Currently, there are no approved treatments, although AAV8-mediated gene transfer therapy has shown promise in animal models and preliminarily in patients. However, 4 patients with XLMTM treated...

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Detalles Bibliográficos
Autores principales: Karolczak, Sophie, Deshwar, Ashish R., Aristegui, Evangelina, Kamath, Binita M., Lawlor, Michael W., Andreoletti, Gaia, Volpatti, Jonathan, Ellis, Jillian L., Yin, Chunyue, Dowling, James J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10503795/
https://www.ncbi.nlm.nih.gov/pubmed/37490339
http://dx.doi.org/10.1172/JCI166275

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10503795/
https://www.ncbi.nlm.nih.gov/pubmed/37490339
http://dx.doi.org/10.1172/JCI166275

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