New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts
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A. Tessa | F. Santorelli | F. Gemignani | R. Battini | L. Salviati | V. Leuzzi | M. Marchese | Serena Mero | A. Rubegni | C. Calderan | Francesca Nardecchia | D. Galatolo | M. A. Desbats | V. Naef | Maria Novelli | M. Novelli | Maria Marchese