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Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes

MedGen UID:
831973
Concept ID:
CN227185
Disease or Syndrome
Orphanet: ORPHA309136

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Follow this link to review classifications for Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes in Orphanet.

Professional guidelines

PubMed

Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V
Orphanet J Rare Dis 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5. PMID: 35854306Free PMC Article
Rahman S
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DiMauro S, Hirano M
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Recent clinical studies

Etiology

Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Miles EA, Childs CE, Calder PC
Nutrients 2021 Jan 16;13(1) doi: 10.3390/nu13010247. PMID: 33467123Free PMC Article
Rahman S
Epilepsy Behav 2019 Dec;101(Pt B):106546. Epub 2019 Oct 31 doi: 10.1016/j.yebeh.2019.106546. PMID: 31677997
Bragoszewski P, Turek M, Chacinska A
Open Biol 2017 Apr;7(4) doi: 10.1098/rsob.170007. PMID: 28446709Free PMC Article
Schapira AH
Curr Opin Neurol 2000 Oct;13(5):527-32. doi: 10.1097/00019052-200010000-00004. PMID: 11073358

Diagnosis

Rahman S
Handb Clin Neurol 2023;194:43-63. doi: 10.1016/B978-0-12-821751-1.00015-4. PMID: 36813320
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Wang T, Liu H, Itoh K, Oh S, Zhao L, Murata D, Sesaki H, Hartung T, Na CH, Wang J
Cell Metab 2021 Mar 2;33(3):531-546.e9. Epub 2021 Feb 4 doi: 10.1016/j.cmet.2021.01.005. PMID: 33545050Free PMC Article
El-Hattab AW, Scaglia F
Cell Calcium 2016 Sep;60(3):199-206. Epub 2016 Mar 4 doi: 10.1016/j.ceca.2016.03.003. PMID: 26996063
Zeviani M, Tiranti V, Piantadosi C
Medicine (Baltimore) 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. PMID: 9465864

Therapy

Sabharwal A, Campbell JM, Schwab TL, WareJoncas Z, Wishman MD, Ata H, Liu W, Ichino N, Hunter DE, Bergren JD, Urban MD, Urban RM, Holmberg SR, Kar B, Cook A, Ding Y, Xu X, Clark KJ, Ekker SC
Genes (Basel) 2022 Jul 23;13(8) doi: 10.3390/genes13081317. PMID: 35893052Free PMC Article
Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P, Mamia K, Pernaa N, Lehtonen J, Glumoff V, Rahikkala E, Honkila M, Olsén P, Hassinen A, Polso M, Al Sukaiti N, Al Shekaili J, Al Kindi M, Al Hashmi N, Almusa H, Bulanova D, Haapaniemi E, Chen P, Suo-Palosaari M, Vieira P, Tuominen H, Kokkonen H, Al Macki N, Al Habsi H, Löppönen T, Rantala H, Pietiäinen V, Zhang SY, Renko M, Hautala T, Al Farsi T, Uusimaa J, Saarela J
J Allergy Clin Immunol 2021 Aug;148(2):599-611. Epub 2021 Mar 1 doi: 10.1016/j.jaci.2020.12.656. PMID: 33662367
Rahman S
Epilepsy Behav 2019 Dec;101(Pt B):106546. Epub 2019 Oct 31 doi: 10.1016/j.yebeh.2019.106546. PMID: 31677997
Weissig V, Torchilin VP
Curr Pharm Biotechnol 2000 Dec;1(4):325-46. doi: 10.2174/1389201003378870. PMID: 11467330
Schapira AH
Curr Opin Neurol 2000 Oct;13(5):527-32. doi: 10.1097/00019052-200010000-00004. PMID: 11073358

Prognosis

Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Delp J, Funke M, Rudolf F, Cediel A, Bennekou SH, van der Stel W, Carta G, Jennings P, Toma C, Gardner I, van de Water B, Forsby A, Leist M
Arch Toxicol 2019 Jun;93(6):1585-1608. Epub 2019 Jun 12 doi: 10.1007/s00204-019-02473-y. PMID: 31190196
El-Hattab AW, Scaglia F
Cell Calcium 2016 Sep;60(3):199-206. Epub 2016 Mar 4 doi: 10.1016/j.ceca.2016.03.003. PMID: 26996063
Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W
J Inherit Metab Dis 2015 Jul;38(4):629-40. Epub 2015 Mar 17 doi: 10.1007/s10545-015-9831-y. PMID: 25778941Free PMC Article
Schapira AH
J Inherit Metab Dis 2002 May;25(3):207-14. doi: 10.1023/a:1015629912477. PMID: 12137229

Clinical prediction guides

Gemmer M, Chaillet ML, van Loenhout J, Cuevas Arenas R, Vismpas D, Gröllers-Mulderij M, Koh FA, Albanese P, Scheltema RA, Howes SC, Kotecha A, Fedry J, Förster F
Nature 2023 Feb;614(7946):160-167. Epub 2023 Jan 25 doi: 10.1038/s41586-022-05638-5. PMID: 36697828Free PMC Article
Simmons EC, Scholpa NE, Schnellmann RG
Exp Neurol 2020 Jul;329:113309. Epub 2020 Apr 11 doi: 10.1016/j.expneurol.2020.113309. PMID: 32289315Free PMC Article
Feichtinger RG, Sperl W, Bauer JW, Kofler B
Exp Dermatol 2014 Sep;23(9):607-14. doi: 10.1111/exd.12484. PMID: 24980550
Mimaki M, Wang X, McKenzie M, Thorburn DR, Ryan MT
Biochim Biophys Acta 2012 Jun;1817(6):851-62. Epub 2011 Sep 2 doi: 10.1016/j.bbabio.2011.08.010. PMID: 21924235
Gerbitz KD, Gempel K, Brdiczka D
Diabetes 1996 Feb;45(2):113-26. doi: 10.2337/diab.45.2.113. PMID: 8549853

Recent systematic reviews

Fassone E, Rahman S
J Med Genet 2012 Sep;49(9):578-90. doi: 10.1136/jmedgenet-2012-101159. PMID: 22972949

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