Article

The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation

2024-06-21

Abstract excerpt

Pathogenic variants in the mitochondrial protein MFN2 are typically associated with a peripheral neuropathy phenotype, but can also include a variety of additional pathologies including myopathy. Here, we identified a previously uncharacterized MFN2 variant, Q367H, in a patient diagnosed with late-onset distal myopathy, but without peripheral neuropathy. Consistent with the hypothesis that the Q367H MFN2 variant c...

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Literature Corpus work: 2b80362c-4792-5d1b-900e-abaf49ca1114
DOI: 10.1101/2024.06.20.24309123

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