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Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder

MedGen UID:
1711158
•Concept ID:
C5238796
•
Finding

Definition

A muscular dystrophy that was caused by a primary disorder of oxidative phosphorylation. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMuscular Dystrophy Secondary to Oxidative Phosphorylation Disorder

Recent clinical studies

Etiology

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators
Neurology 2023 Jul 18;101(3):e238-e252. Epub 2023 Jun 2 doi: 10.1212/WNL.0000000000207402. PMID: 37268435Free PMC Article

Diagnosis

Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R
J Inherit Metab Dis 2020 Mar;43(2):297-308. Epub 2019 Aug 13 doi: 10.1002/jimd.12156. PMID: 31339582Free PMC Article
Early myopathy in Duchenne muscular dystrophy is associated with elevated mitochondrial H(2) O(2) emission during impaired oxidative phosphorylation.
Hughes MC, Ramos SV, Turnbull PC, Rebalka IA, Cao A, Monaco CMF, Varah NE, Edgett BA, Huber JS, Tadi P, Delfinis LJ, Schlattner U, Simpson JA, Hawke TJ, Perry CGR
J Cachexia Sarcopenia Muscle 2019 Jun;10(3):643-661. Epub 2019 Apr 2 doi: 10.1002/jcsm.12405. PMID: 30938481Free PMC Article

Therapy

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators
Neurology 2023 Jul 18;101(3):e238-e252. Epub 2023 Jun 2 doi: 10.1212/WNL.0000000000207402. PMID: 37268435Free PMC Article

Clinical prediction guides

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators
Neurology 2023 Jul 18;101(3):e238-e252. Epub 2023 Jun 2 doi: 10.1212/WNL.0000000000207402. PMID: 37268435Free PMC Article
Early myopathy in Duchenne muscular dystrophy is associated with elevated mitochondrial H(2) O(2) emission during impaired oxidative phosphorylation.
Hughes MC, Ramos SV, Turnbull PC, Rebalka IA, Cao A, Monaco CMF, Varah NE, Edgett BA, Huber JS, Tadi P, Delfinis LJ, Schlattner U, Simpson JA, Hawke TJ, Perry CGR
J Cachexia Sarcopenia Muscle 2019 Jun;10(3):643-661. Epub 2019 Apr 2 doi: 10.1002/jcsm.12405. PMID: 30938481Free PMC Article
Bone marrow adipocytes promote the Warburg phenotype in metastatic prostate tumors via HIF-1α activation.
Diedrich JD, Rajagurubandara E, Herroon MK, Mahapatra G, Hüttemann M, Podgorski I
Oncotarget 2016 Oct 4;7(40):64854-64877. doi: 10.18632/oncotarget.11712. PMID: 27588494Free PMC Article

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