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Maternally-inherited progressive external ophthalmoplegia

MedGen UID:
1565381
•Concept ID:
CN924917
•
Disease or Syndrome
Synonyms: Maternally-inherited chronic progressive external ophthalmoplegia; maternally-inherited chronic progressive external ophthalmoplegia; Maternally-inherited CPEO; maternally-inherited CPEO; maternally-inherited progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia; mtDNA-related progressive external ophthalmoplegia
Modes of inheritance:
Mitochondrial inheritance
MedGen UID:
165802
•Concept ID:
C0887941
•
Genetic Function
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Mitochondrial inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0019016
Orphanet: ORPHA663

Definition

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMaternally-inherited progressive external ophthalmoplegia

Professional guidelines

PubMed

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.
Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R
J Neurol Neurosurg Psychiatry 2013 Aug;84(8):936-8. Epub 2013 Jan 25 doi: 10.1136/jnnp-2012-303528. PMID: 23355809
Genotype-phenotype correlation of maternally inherited disorders due to mutations in mitochondrial DNA.
Thajeb P, Dai D, Chiang MF, Shyu WC
Taiwan J Obstet Gynecol 2006 Sep;45(3):201-7. doi: 10.1016/S1028-4559(09)60225-4. PMID: 17175464
Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.
Marotta R, Chin J, Quigley A, Katsabanis S, Kapsa R, Byrne E, Collins S
Intern Med J 2004 Jan-Feb;34(1-2):10-9. doi: 10.1111/j.1444-0903.2004.t01-3-.x. PMID: 14748908

Recent clinical studies

Etiology

Macrocytosis in Mitochondrial DNA Deletion Syndromes.
Almarzooqi F, Vallance H, Mezei M, Lehman A, Horvath G, Rakic B, Zypchen L, Mattman A
Acta Haematol 2023;146(3):220-225. Epub 2023 Feb 10 doi: 10.1159/000529311. PMID: 36774923
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Mitochondrial cytopathies.
Schmiedel J, Jackson S, Schäfer J, Reichmann H
J Neurol 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. PMID: 12638015
Mitochondrial dysfunction in bipolar disorder.
Kato T, Kato N
Bipolar Disord 2000 Sep;2(3 Pt 1):180-90. doi: 10.1034/j.1399-5618.2000.020305.x. PMID: 11256685
Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979

Diagnosis

Macrocytosis in Mitochondrial DNA Deletion Syndromes.
Almarzooqi F, Vallance H, Mezei M, Lehman A, Horvath G, Rakic B, Zypchen L, Mattman A
Acta Haematol 2023;146(3):220-225. Epub 2023 Feb 10 doi: 10.1159/000529311. PMID: 36774923
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Mitochondrial cytopathies.
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
Mitochondrial cytopathies.
Schmiedel J, Jackson S, Schäfer J, Reichmann H
J Neurol 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. PMID: 12638015
Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979

Therapy

Germ-line deletions of mtDNA in mitochondrial myopathy.
Poulton J, Deadman ME, Ramacharan S, Gardiner RM
Am J Hum Genet 1991 Apr;48(4):649-53. PMID: 2014792Free PMC Article

Prognosis

Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report.
Lemoine S, Panaye M, Rabeyrin M, Errazuriz-Cerda E, Mousson de Camaret B, Petiot P, Juillard L, Guebre-Egziabher F
Am J Kidney Dis 2018 May;71(5):754-757. Epub 2017 Dec 8 doi: 10.1053/j.ajkd.2017.09.020. PMID: 29224958
Mitochondrial cytopathies.
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
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco EC, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G
J Neurol 2014 Mar;261(3):504-10. Epub 2013 Dec 29 doi: 10.1007/s00415-013-7225-3. PMID: 24375076
Clinical and laboratory findings in referrals for mitochondrial DNA analysis.
Lamont PJ, Surtees R, Woodward CE, Leonard JV, Wood NW, Harding AE
Arch Dis Child 1998 Jul;79(1):22-7. doi: 10.1136/adc.79.1.22. PMID: 9771247Free PMC Article
Germ-line deletions of mtDNA in mitochondrial myopathy.
Poulton J, Deadman ME, Ramacharan S, Gardiner RM
Am J Hum Genet 1991 Apr;48(4):649-53. PMID: 2014792Free PMC Article

Clinical prediction guides

A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss.
van Kempen CMA, Beynon AJ, Smits JJ, Janssen MCH
Mol Genet Metab 2022 Apr;135(4):333-341. Epub 2022 Feb 15 doi: 10.1016/j.ymgme.2022.02.003. PMID: 35190254
Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study.
Primiano G, Brunetti V, Vollono C, Losurdo A, Moroni R, Della Marca G, Servidei S
Neurology 2021 Jan 12;96(2):e241-e249. Epub 2020 Oct 6 doi: 10.1212/WNL.0000000000011005. PMID: 33024021
Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders.
Oh JK, Lima de Carvalho JR Jr, Nuzbrokh Y, Ryu J, Chemudupati T, Mahajan VB, Sparrow JR, Tsang SH
Invest Ophthalmol Vis Sci 2020 Oct 1;61(12):12. doi: 10.1167/iovs.61.12.12. PMID: 33049060Free PMC Article
Mitochondrial DNA mutations in diseases of energy metabolism.
Wallace DC
J Bioenerg Biomembr 1994 Jun;26(3):241-50. doi: 10.1007/BF00763096. PMID: 8077179
Germ-line deletions of mtDNA in mitochondrial myopathy.
Poulton J, Deadman ME, Ramacharan S, Gardiner RM
Am J Hum Genet 1991 Apr;48(4):649-53. PMID: 2014792Free PMC Article

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