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Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy.

JCI Insight · 2025 · PMC12643485 · PMID 41086017

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The specific maximal force produced by the Mtm1 -KI C375S mice was notably lower at an average of 12.8 mN/mg compared with 19.4 mN/mg for the WT mice, though this difference did not reach statistical significance due to high variation within the mutant group.

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