New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts

Serena Mero, Leonardo Salviati, Vincenzo Leuzzi, Anna Rubegni, Cristina Calderan, Francesca Nardecchia, Daniele Galatolo, María Andrea Desbats, Valentina Naef, Federica Gemignani,

Journal of Neurology · 2021 · 29 citations · 41 references

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