The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation
The present study describes a novel pathogenic variant in MFN2 from a patient with late-onset distal myopathy and links pathogenic perturbation of MFN2 function to mitochondrial DNA release and inflammation. Pathogenic variants in the mitochondrial protein MFN2 are typically associated with a periph...
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| Auteurs principaux: | , , , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Life Science Alliance LLC
2025-06-01
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| Collection: | Life Science Alliance |
| Accès en ligne: | https://www.life-science-alliance.org/lookup/doi/10.26508/lsa.202402921 |
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