MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.
Pujol C, Lebigot E, Gaignard P, Galai S, Kraoua I, Bault JP, Dard R, Youssef-Turki IB, Omar S, Boutron A, Wai T, Slama A
Brain. 2023 Mar 1;146(3):858-864. doi: 10.1093/brain/awac444.
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