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Mitochondrial myopathy with a defect in mitochondrial-protein transport

MedGen UID:
381541
Concept ID:
C1855034
Disease or Syndrome
Synonym: Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport
 
Monarch Initiative: MONDO:0009638
OMIM®: 251945

Authors:
Patrick F Chinnery   view full author information

Clinical features

From HPO
Exercise intolerance
MedGen UID:
603270
Concept ID:
C0424551
Finding
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Inborn mitochondrial myopathy
MedGen UID:
56484
Concept ID:
C0162670
Disease or Syndrome
A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Hargreaves IP, Duncan AJ, Wu L, Agrawal A, Land JM, Heales SJ
Mitochondrion 2007 Jul;7(4):284-7. Epub 2007 Feb 12 doi: 10.1016/j.mito.2007.02.001. PMID: 17395552
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Recent clinical studies

Etiology

O'Connor K, Spendiff S, Lochmüller H, Horvath R
Int J Mol Sci 2023 May 9;24(10) doi: 10.3390/ijms24108505. PMID: 37239850Free PMC Article
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
Palmieri F, Scarcia P, Monné M
Biomolecules 2020 Apr 23;10(4) doi: 10.3390/biom10040655. PMID: 32340404Free PMC Article
Nicolas E, Tricarico R, Savage M, Golemis EA, Hall MJ
Am J Hum Genet 2019 May 2;104(5):784-801. doi: 10.1016/j.ajhg.2019.03.019. PMID: 31051112Free PMC Article
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979

Diagnosis

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
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
Longo N, Frigeni M, Pasquali M
Biochim Biophys Acta 2016 Oct;1863(10):2422-35. Epub 2016 Jan 29 doi: 10.1016/j.bbamcr.2016.01.023. PMID: 26828774Free PMC Article
Finsterer J
Eur J Neurol 2004 Mar;11(3):163-86. doi: 10.1046/j.1351-5101.2003.00728.x. PMID: 15009163
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979

Therapy

Tournadre A
Joint Bone Spine 2020 Jan;87(1):37-42. Epub 2019 Feb 6 doi: 10.1016/j.jbspin.2019.01.018. PMID: 30735805
Longo N, Frigeni M, Pasquali M
Biochim Biophys Acta 2016 Oct;1863(10):2422-35. Epub 2016 Jan 29 doi: 10.1016/j.bbamcr.2016.01.023. PMID: 26828774Free PMC Article
Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M
Am J Hum Genet 2010 Apr 9;86(4):639-49. Epub 2010 Apr 1 doi: 10.1016/j.ajhg.2010.03.002. PMID: 20362274Free PMC Article
Coman D, Yaplito-Lee J, Boneh A
Clin Nutr 2008 Aug;27(4):489-96. Epub 2008 Jul 21 doi: 10.1016/j.clnu.2008.05.007. PMID: 18640748
Preedy VR, Patel VB, Reilly ME, Richardson PJ, Falkous G, Mantle D
Front Biosci 1999 Aug 1;4:e58-66. doi: 10.2741/A480. PMID: 10430553

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
Marra F, Lunetti P, Curcio R, Lasorsa FM, Capobianco L, Porcelli V, Dolce V, Fiermonte G, Scarcia P
Biomolecules 2021 Nov 4;11(11) doi: 10.3390/biom11111633. PMID: 34827632Free PMC Article
Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D
Hum Mutat 2018 Apr;39(4):563-578. Epub 2018 Feb 7 doi: 10.1002/humu.23398. PMID: 29314548Free 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
Finsterer J
Eur J Neurol 2004 Mar;11(3):163-86. doi: 10.1046/j.1351-5101.2003.00728.x. PMID: 15009163

Clinical prediction guides

Tang X, Xu W, Song X, Ye H, Ren X, Yang Y, Zhang H, Wu S, Lan X
Genes Genomics 2022 Jun;44(6):691-698. Epub 2022 Apr 28 doi: 10.1007/s13258-022-01260-x. PMID: 35482246
Cheema NJ, Cameron JM, Hood DA
Am J Physiol Cell Physiol 2021 Jul 1;321(1):C176-C186. Epub 2021 Jun 9 doi: 10.1152/ajpcell.00471.2020. PMID: 34106788
Tahrir FG, Knezevic T, Gupta MK, Gordon J, Cheung JY, Feldman AM, Khalili K
J Cell Physiol 2017 Apr;232(4):797-805. Epub 2016 Jul 19 doi: 10.1002/jcp.25476. PMID: 27381181Free PMC Article
Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D
Hum Mutat 2014 Aug;35(8):983-9. Epub 2014 Jun 24 doi: 10.1002/humu.22590. PMID: 24827421Free PMC Article
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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