Mitochondrial Myopathy and Sideroblastic Anemia
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Questions and Answers

What is the specific disorder associated with the missense mutation in Pseudouridine Synthase 1 (PUS1)?

  • Mitochondrial myopathy and sideroblastic anemia (MLASA) (correct)
  • Sickle cell anemia
  • Cystic fibrosis
  • Hemochromatosis

    • Where is the candidate region for the disorder MLASA localized?

  • 3.0 Mb on 15q13.2
  • 0.8 Mb on 5q31.2
  • 1.2 Mb on 12q24.33 (correct)
  • 2.5 Mb on 8p21.1

    • Which department and research center is associated with the study mentioned in the text?

  • Department of Cardiology, Mayo Clinic
  • Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center (correct)
  • Department of Psychiatry, Harvard Medical School
  • Department of Neurology, Johns Hopkins Medical Center

    • Which medical center is associated with the Institute of Thrombosis and Hemostasis mentioned in the text?

    <p>Sheba Medical Center, Tel Hashomer</p> Signup and view all the answers

    What type of disorder is MLASA?

    <p>Autosomal recessive oxidative phosphorylation disorder</p> Signup and view all the answers

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