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

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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Bibliographic Details
Main Authors: Sophie Karolczak, Ashish R. Deshwar, Evangelina Aristegui, Binita M. Kamath, Michael W. Lawlor, Gaia Andreoletti, Jonathan Volpatti, Jillian L. Ellis, Chunyue Yin, James J. Dowling
Format: Article
Language:English
Published: American Society for Clinical Investigation 2023-09-01
Series:The Journal of Clinical Investigation
Subjects:
Hepatology
Muscle biology
Online Access:https://doi.org/10.1172/JCI166275

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