A new study shows that mutations in Col6a, encoding collagen VI, cause muscle degeneration by affecting a distant target, the mitochondrion. The results show how elucidating the cellular consequences of genetic defects may provide unexpected perspectives into disease mechanism.
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Rizzuto, R. The collagen-mitochondria connection. Nat Genet 35, 300–301 (2003). https://doi.org/10.1038/ng1203-300
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DOI: https://doi.org/10.1038/ng1203-300
