ACO2 mutations

Overview of attention for article published in Neurology: Genetics, March 2018

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RT @studyrare: 2️⃣ Aconitase 2 (ACO2) catalyzes the 2nd step in the Krebs cycle, converting citrate ➡️ isocitrate. Gene: ACO2 Inheritance:…

2️⃣ Aconitase 2 (ACO2) catalyzes the 2nd step in the Krebs cycle, converting citrate ➡️ isocitrate. Gene: ACO2 Inheritance: AD/AR Clinical: “ACO:” Ataxia, “C-zures” (seizures), Optic atrophy. Spectrum is highly variable. More info: https://t.co/cwEazgCf…

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