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Paper Details

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Physiol Genomics
12
2018
464A, C2C12 myoblasts, CG10721, CG10721 deficiency, Developmental impairments, Drosophila, LGMD, Mendelian, Mendelian disorders, PYROXD1, PYROXD1 deficiency, Pyroxd1, Pyroxd1 deficiency, Pyroxd1 fly homolog, fly, limb-girdle muscular dystrophy, murine, murine C2C12 myoblasts, myofibrillar myopathy, thiol
Author NameAffiliation
Monkol LekMassachusetts General Hospital and Harvard Medical School
Monkol LekBroad Institute of the Massachusetts Institute of Technology and Harvard University
Elise ValkanasMassachusetts General Hospital and Harvard Medical School
Elise ValkanasBroad Institute of the Massachusetts Institute of Technology and Harvard University
Daniel G MacArthurMassachusetts General Hospital and Harvard Medical School
Daniel G MacArthurBroad Institute of the Massachusetts Institute of Technology and Harvard University
Daniel G MacArthurMassachusetts General Hospital and Harvard Medical School
Daniel G MacArthurBroad Institute of the Massachusetts Institute of Technology and Harvard University
Louis M KunkelBoston Children's Hospital and Harvard Medical School
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