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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

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