Rosario Rizzuto is in the Department of Experimental and Diagnostic Medicine, Via Borsari 46, 44100 Ferrara, Italy. rosario.rizzuto@unife.it
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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