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Article

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

The Journal of clinical investigation - 15 Sept 2023

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

Abstract excerpt

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 with gene therapy have died from progressive liver failure, and hepatobiliary disease has now been recognized more...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37490339
DOI: 10.1172/JCI166275
PMCID: PMC10503795

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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