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Keywords: Mitochondrial impairment
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Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol 1–7.
Published Online: 10 December 2024
... cardiomyopathy in MRT38, a manifestation not previously associated with HERC2 variants. The unusual cardiac phenotype suggests a potential link between HERC2 dysfunction and mitochondrial impairment, contributing to cardiomyopathy. Conclusion: These patients underscore the importance of recognizing novel...