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
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Publisher
United States: American Society for Clinical Investigation
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Language
English
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Publisher
United States: American Society for Clinical Investigation
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Contents
X-linked myotubular myopathy (XLMTM) is a fatal congenital disorder caused by mutations in the MTM1 gene. Currently, there are no approved treatments, though AAV8-mediated gene transfer therapy has shown promise in animal models and preliminarily in patients. However, four patients with XLMTM treated with gene therapy have died from progressive liv...
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Full title
Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10503795
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10503795
Other Identifiers
ISSN
1558-8238,0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI166275
