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Myoglobinuria, the traditional hallmark of this disease was not present in 21% patients in one study [48]

Evans, A

Mark RJ, Hensley K, Butterfield DA, Mattson MP

Indeed, proline could be crucial for protein conformation, and its substitution in essential domains may be responsible for relevant enzyme or transporter dysfunction, and then for severe clinical manifestations of disease [4]

Graphical abstract Access this article Similar content being viewed by others Data availability The data that support the findings of this study are available from the corresponding author upon reasonable request