The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.

As expected, we observed a highly significant inverse correlation between CAG repeat numbers and the AAO in a multivariate linear regression analysis ( P < 0.0001), both for the individual sub-cohorts (Supplementary Table S9) and combined cohorts of MJD patients (Fig. 1 e; Table 2 ; Supplementary Table S9).

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