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Author

A. Muchir

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Jul 2026

LMNA p.H222P mutation causes contractile dysfunction via impaired mitochondrial calcium uptake in human cardiac laminopathy.

This work provides a paradigm for connecting gene-specific nuclear defects to mitochondrial dysfunction in inherited cardiomyopathies and highlights the MCU complex as a potential therapeutic target in LMNA-related cardiomyopathy.

M. Seguret, C. Jouve, A. Ruiz-Velasco et al. · 1 citation

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