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Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA

MedGen UID:
1826011
Concept ID:
C5679645
Disease or Syndrome
Synonyms: Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA; OXPHOS disease due to a point mutation of mitochondrial DNA; OXPHOS disease due to a point mutation of mtDNA
 
Orphanet: ORPHA254776

Professional guidelines

PubMed

Gropman AL
Curr Neurol Neurosci Rep 2001 Mar;1(2):185-94. doi: 10.1007/s11910-001-0015-9. PMID: 11898515

Recent clinical studies

Etiology

Heuer B
J Am Assoc Nurse Pract 2021 Sep 1;33(9):673-675. doi: 10.1097/JXX.0000000000000646. PMID: 34491238
Mkaouar-Rebai E, Felhi R, Tabebi M, Alila-Fersi O, Chamkha I, Maalej M, Ammar M, Kammoun F, Keskes L, Hachicha M, Fakhfakh F
Biochem Biophys Res Commun 2016 Apr 29;473(2):578-85. Epub 2016 Mar 28 doi: 10.1016/j.bbrc.2016.03.126. PMID: 27033601
Copeland WC
Crit Rev Biochem Mol Biol 2012 Jan-Feb;47(1):64-74. doi: 10.3109/10409238.2011.632763. PMID: 22176657Free PMC Article
Pulkes T, Hanna MG
Adv Drug Deliv Rev 2001 Jul 2;49(1-2):27-43. doi: 10.1016/s0169-409x(01)00124-7. PMID: 11377801
Shoffner JM
Lancet 1996 Nov 9;348(9037):1283-8. doi: 10.1016/S0140-6736(96)09138-6. PMID: 8909383

Diagnosis

Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF
J Med Genet 2009 Mar;46(3):145-58. Epub 2008 Nov 10 doi: 10.1136/jmg.2007.054270. PMID: 19001017Free PMC Article
Gropman AL
Curr Neurol Neurosci Rep 2001 Mar;1(2):185-94. doi: 10.1007/s11910-001-0015-9. PMID: 11898515
Treem WR, Sokol RJ
Semin Liver Dis 1998;18(3):237-53. doi: 10.1055/s-2007-1007160. PMID: 9773424
Zeviani M, Fernandez-Silva P, Tiranti V
Curr Opin Neurol 1997 Apr;10(2):160-7. doi: 10.1097/00019052-199704000-00015. PMID: 9146998
Shoffner JM
Lancet 1996 Nov 9;348(9037):1283-8. doi: 10.1016/S0140-6736(96)09138-6. PMID: 8909383

Therapy

Bacman SR, Kauppila JHK, Pereira CV, Nissanka N, Miranda M, Pinto M, Williams SL, Larsson NG, Stewart JB, Moraes CT
Nat Med 2018 Nov;24(11):1696-1700. Epub 2018 Sep 24 doi: 10.1038/s41591-018-0166-8. PMID: 30250143Free PMC Article
Clay HB, Sillivan S, Konradi C
Int J Dev Neurosci 2011 May;29(3):311-24. Epub 2010 Sep 15 doi: 10.1016/j.ijdevneu.2010.08.007. PMID: 20833242Free PMC Article
Foster C, Lyall H
J Antimicrob Chemother 2008 Jan;61(1):8-12. Epub 2007 Nov 13 doi: 10.1093/jac/dkm411. PMID: 17999978
Winkler-Stuck K, Kirches E, Mawrin C, Dietzmann K, Lins H, Wallesch CW, Kunz WS, Wiedemann FR
J Neural Transm (Vienna) 2005 Apr;112(4):499-518. Epub 2004 Aug 3 doi: 10.1007/s00702-004-0195-y. PMID: 15340872
Ojaimi J, Katsabanis S, Bower S, Quigley A, Byrne E
Cerebrovasc Dis 1998 Mar-Apr;8(2):102-6. doi: 10.1159/000015826. PMID: 9548008

Prognosis

Heuer B
J Am Assoc Nurse Pract 2021 Sep 1;33(9):673-675. doi: 10.1097/JXX.0000000000000646. PMID: 34491238
Tanaka M, Fuku N, Takeyasu T, Guo LJ, Hirose R, Kurata M, Borgeld HJ, Yamada Y, Maruyama W, Arai Y, Hirose N, Oshida Y, Sato Y, Hattori N, Mizuno Y, Iwata S, Yagi K
J Neurosci Res 2002 Nov 1;70(3):347-55. doi: 10.1002/jnr.10444. PMID: 12391595
Schapira AH
J Inherit Metab Dis 2002 May;25(3):207-14. doi: 10.1023/a:1015629912477. PMID: 12137229
Naviaux RK
Eur J Pediatr 2000 Dec;159 Suppl 3:S219-26. doi: 10.1007/pl00014407. PMID: 11216904
Thyagarajan D, Bressman S, Bruno C, Przedborski S, Shanske S, Lynch T, Fahn S, DiMauro S
Ann Neurol 2000 Nov;48(5):730-6. PMID: 11079536

Clinical prediction guides

Area-Gomez E, Guardia-Laguarta C, Schon EA, Przedborski S
J Clin Invest 2019 Jan 2;129(1):34-45. doi: 10.1172/JCI120848. PMID: 30601141Free PMC Article
Clay HB, Sillivan S, Konradi C
Int J Dev Neurosci 2011 May;29(3):311-24. Epub 2010 Sep 15 doi: 10.1016/j.ijdevneu.2010.08.007. PMID: 20833242Free PMC Article
Papa S, Sardanelli AM, Capitanio N, Piccoli C
J Bioenerg Biomembr 2009 Dec;41(6):509-16. doi: 10.1007/s10863-009-9252-4. PMID: 19904588
Zeviani M, Fernandez-Silva P, Tiranti V
Curr Opin Neurol 1997 Apr;10(2):160-7. doi: 10.1097/00019052-199704000-00015. PMID: 9146998
Gerbitz KD, Gempel K, Brdiczka D
Diabetes 1996 Feb;45(2):113-26. doi: 10.2337/diab.45.2.113. PMID: 8549853

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