Research & Literature

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.

Reyes A, Melchionda L, Nasca A, et al.

American journal of human genetics 2015; (97(1)):186-93.

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.

Ng YS, Grady JP, Lax NZ, et al.

European heart journal 2016; (37(32)):2552-9 doi:10.1093/eurheartj/ehv306.

Progressive External Ophthalmoplegia.

McClelland C, Manousakis G, Lee MS

Current neurology and neuroscience reports 2016; (16(6)):53 doi:10.1007/s11910-016-0652-7.

Chronic Progressive External Ophthalmoplegia in the Absence of Ptosis.

Bucelli RC, Lee MS, McClelland CM

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2016; (36(3)):270-4 doi:10.1097/WNO.0000000000000384.

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.

Anagnostou ME, Ng YS, Taylor RW, McFarland R

Epilepsia 2016; (57(10)):1531-1545 doi:10.1111/epi.13508.

Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy.

van der Sluijs BM, Raz V, Lammens M, et al.

Journal of neuromuscular diseases 2016; (3(1)):101-109 doi:10.3233/JND-150118.

Late-Onset Development of Eyelid Ptosis in Chronic Progressive External Ophthalmoplegia: A 30-Year Follow-up.

Murdock J, Thyparampil PJ, Yen MT

Neuro-ophthalmology (Aeolus Press) 2016; (40(1)):44-46 doi:10.3109/01658107.2015.1122815.

Mitochondrial DNA maintenance defects.

El-Hattab AW, Craigen WJ, Scaglia F

Biochimica et biophysica acta. Molecular basis of disease 2017; (1863(6)):1539-1555 doi:10.1016/j.bbadis.2017.02.017.

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency.

Lopez-Gomez C, Levy RJ, Sanchez-Quintero MJ, et al.

Annals of neurology 2017; (81(5)):641-652 doi:10.1002/ana.24922.

MtDNA-maintenance defects: syndromes and genes.

Viscomi C, Zeviani M

Journal of inherited metabolic disease 2017; (40(4)):587-599 doi:10.1007/s10545-017-0027-5.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

Bugiardini E, Poole OV, Manole A, et al.

Neurology. Genetics 2017; (3(3)):e149 doi:10.1212/NXG.0000000000000149.

Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A).

Vogel AP, Rommel N, Oettinger A, et al.

Mitochondrion 2017; (37()):1-7 doi:10.1016/j.mito.2017.06.002.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Orsucci D, Angelini C, Bertini E, et al.

Journal of neurology 2017; (264(8)):1777-1784 doi:10.1007/s00415-017-8567-z.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Karaa A, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(12)) doi:10.1038/gim.2017.107.

Understanding the Epilepsy in POLG Related Disease.

Hikmat O, Eichele T, Tzoulis C, Bindoff LA

International journal of molecular sciences 2017; (18(9)) doi:10.3390/ijms18091845.

Efficacy of frontalis suspension with silicone rods in ptosis patients with poor Bell's phenomenon.

Shah KP, Mukherjee B

Taiwan journal of ophthalmology 2017; (7(3)):143-148 doi:10.4103/tjo.tjo_36_17.

Surgical Technique for Pulled in Two Syndrome: Three Cases With Chronic Progressive External Ophthalmoplegia.

Jones AM, Starte J, Dunn H, et al.

Journal of pediatric ophthalmology and strabismus 2017; (54()):e83-e87 doi:10.3928/01913913-20171017-01.

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

Komlosi K, Diederich S, Fend-Guella DL, et al.

Orphanet journal of rare diseases 2018; (13(1)):23 doi:10.1186/s13023-018-0763-0.

Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.

Bacalhau M, Simões M, Rocha MC, et al.

Neuromuscular disorders : NMD 2018; (28(4)):350-360 doi:10.1016/j.nmd.2017.11.006.

Strabismus surgery for diplopia in chronic progressive external ophthalmoplegia.

Chatzistefanou KI, Brouzas D, Asproudis I, et al.

International ophthalmology 2019; (39(1)):213-217 doi:10.1007/s10792-017-0781-2.

Diagnostic odyssey of patients with mitochondrial disease: Results of a survey.

Grier J, Hirano M, Karaa A, et al.

Neurology. Genetics 2018; (4(2)):e230 doi:10.1212/NXG.0000000000000230.

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, et al.

Journal of medical genetics 2018; (55(8)):515-521 doi:10.1136/jmedgenet-2017-105012.

POLG-related disorders and their neurological manifestations.

Rahman S, Copeland WC

Nature reviews. Neurology 2019; (15(1)):40-52 doi:10.1038/s41582-018-0101-0.

[An interpretation of the expert consensus on standards for the management of patients with primary mitochondrial disease from the Mitochondrial Medicine Society].

Guo Y, Hong SQ, Jiang L

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018; (20(11)):887-892.

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Hellebrekers DMEI, Blakely EL, Hendrickx ATM, et al.

Neuromuscular disorders : NMD 2019; (29(9)):693-697 doi:10.1016/j.nmd.2019.08.005.

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.

Sommerville EW, Dalla Rosa I, Rosenberg MM, et al.

Clinical genetics 2020; (97(2)):276-286 doi:10.1111/cge.13652.

The mitochondrial epilepsies.

Lim A, Thomas RH

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020; (24()):47-52 doi:10.1016/j.ejpn.2019.12.021.

Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO.

Hedberg-Oldfors C, Macao B, Basu S, et al.

Neurology. Genetics 2020; (6(1)):e391 doi:10.1212/NXG.0000000000000391.

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.

Rodríguez-López C, García-Cárdaba LM, Blázquez A, et al.

Journal of medical genetics 2020; (57(9)):643-646 doi:10.1136/jmedgenet-2019-106649.

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Hikmat O, Naess K, Engvall M, et al.

Journal of inherited metabolic disease 2020; (43(4)):726-736 doi:10.1002/jimd.12211.

Using urine to diagnose large-scale mtDNA deletions in adult patients.

Varhaug KN, Nido GS, de Coo I, et al.

Annals of clinical and translational neurology 2020; (7(8)):1318-1326 doi:10.1002/acn3.51119.

Clinical, neuroelectrophysiological and muscular pathological analysis of chronic progressive external ophthalmoplegia.

Lv H, Qu Q, Liu H, et al.

Experimental and therapeutic medicine 2020; (20(2)):1770-1774 doi:10.3892/etm.2020.8822.

Surgical management of ptosis in chronic progressive external ophthalmoplegia.

Eshaghi M, Arabi A, Eshaghi S

European journal of ophthalmology 2021; (31(4)):2064-2068 doi:10.1177/1120672120952344.

Clinicogenetical Variants of Progressive External Ophthalmoplegia - An Especial Review of Non-ophthalmic Manifestations.

Maghbooli M, Ghaffarpour M, Ghazizadeh T, et al.

Neurology India 2020; (68(4)):760-768 doi:10.4103/0028-3886.293454.

Strabismus in chronic progressive external ophthalmoplegia.

Kim JY, Yang HK, Kim N, et al.

Acta ophthalmologica 2021; (99(2)):e274-e280 doi:10.1111/aos.14558.

Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis.

Ouhenach M, Zrhidri A, Jaouad IC, et al.

BMC medical genetics 2020; (21(1)):240 doi:10.1186/s12881-020-01167-y.

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.

Kierdaszuk B, Kaliszewska M, Rusecka J, et al.

Genes 2020; (12(1)) doi:10.3390/genes12010054.

Neuro-ophthalmic manifestations of mitochondrial disorders and their management.

Lock JH, Irani NK, Newman NJ

Taiwan journal of ophthalmology 2021; (11(1)):39-52 doi:10.4103/tjo.tjo_68_20.

Long-term Results of Palpebral Fissure Transfer With No Lower Eyelid Spacer in Chronic Progressive External Ophthalmoplegia.

Karimi N, Kashkouli MB, Tahanian F, et al.

American journal of ophthalmology 2022; (234()):99-107 doi:10.1016/j.ajo.2021.07.027.

Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers.

Elstner M, Olszewski K, Prokisch H, et al.

International journal of molecular sciences 2021; (22(20)) doi:10.3390/ijms222011080.

Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion.

Kurtz J, Fernandes JA, Mansukhani M, et al.

Case reports in genetics 2021; (2021()):9969071 doi:10.1155/2021/9969071.

Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.

Bermejo-Guerrero L, de Fuenmayor-Fernández de la Hoz CP, Serrano-Lorenzo P, et al.

Journal of clinical medicine 2021; (11(1)) doi:10.3390/jcm11010022.

Atheromatosis of the Scalp: A Novel Feature of Chronic Progressive External Ophthalmoplegia Plus Due to a Single Mitochondrial DNA Deletion.

Finsterer J

Cureus 2021; (13(12)):e20641 doi:10.7759/cureus.20641.

Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.

Hou Y, Zhao X, Xie Z, et al.

Molecular genetics & genomic medicine 2022; (10(5)):e1921 doi:10.1002/mgg3.1921.

Neuropathic Pain as Main Manifestation of POLG-Related Disease: A Case Report.

Lang-Orsini M, Gonzalez-Perez P

Frontiers in neurology 2022; (13()):846110 doi:10.3389/fneur.2022.846110.

Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions.

Manini A, Caporali L, Meneri M, et al.

Frontiers in genetics 2022; (13()):906667 doi:10.3389/fgene.2022.906667.

Variants of uncertain significance in the era of next-generation sequencing.

Levkova M, Stoyanova M, Benkova-Petrova M, et al.

Journal of the American Association of Nurse Practitioners 2022; (34(8)):1018-1021 doi:10.1097/JXX.0000000000000745.

Clinical and imaging clues to the diagnosis and follow-up of ptosis and ophthalmoparesis.

Keene KR, Kan HE, van der Meeren S, et al.

Journal of cachexia, sarcopenia and muscle 2022; (13(6)):2820-2834 doi:10.1002/jcsm.13089.

A review of surgical management of progressive myogenic ptosis.

Park RB, Akella SS, Aakalu VK

Orbit (Amsterdam, Netherlands) 2023; (42(1)):11-24 doi:10.1080/01676830.2022.2122514.

Mitochondrial disease registries worldwide: A scoping review.

Abdul-Fatah A, Esmaeilisaraji L, Juan CM, Holcik M

PloS one 2022; (17(10)):e0276883 doi:10.1371/journal.pone.0276883.

Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy.

Elwan M, Schaefer AM, Craig K, et al.

BMJ neurology open 2022; (4(2)):e000352 doi:10.1136/bmjno-2022-000352.

Chronic mimics of myasthenia gravis: a retrospective case series.

Harrison P, Barton J, Winkel A

Neuromuscular disorders : NMD 2023; (33(3)):250-256 doi:10.1016/j.nmd.2023.01.006.

Progressive external ophthalmoplegia.

Hirano M, Pitceathly RDS

Handbook of clinical neurology 2023; (194()):9-21 doi:10.1016/B978-0-12-821751-1.00018-X.

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.

Restrepo-Vera JL, Rovira-Moreno E, Ramón J, et al.

Journal of human genetics 2023; (68(8)):527-532 doi:10.1038/s10038-023-01144-2.

Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders.

Keene KR, Notting IC, Verschuuren JJGM, et al.

Journal of neuromuscular diseases 2023; (10(5)):869-883 doi:10.3233/JND-230023.

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.

Rötig A, Gaignard P, Barcia G, et al.

Neurology. Genetics 2024; (10(4)):e200167 doi:10.1212/NXG.0000000000200167.

Type and Frequency of Misdiagnosis and Time Lag to Diagnosis in Patients with Chronic Progressive External Ophthalmoplegia.

Karimi N, Ghahvehchian H, Keyhani A, et al.

Journal of ophthalmic & vision research 2024; (19(3)):334-339 doi:10.18502/jovr.v19i3.13998.

Genotype-Phenotype Correlation in Progressive External Ophthalmoplegia: Insights From a Retrospective Analysis.

Wang J, Lin Y, Zhuang X, et al.

Neuropathology and applied neurobiology 2025; (51(1)):e70001 doi:10.1111/nan.70001.

Investigating the safety and efficacy of deoxycytidine/deoxythymidine in mitochondrial DNA depletion disorders: phase 2 open-label trial.

Berrahmoune S, Dassi C, Pekeles H, et al.

Journal of neurology 2025; (272(4)):307 doi:10.1007/s00415-025-13060-w.

Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome.

Munro B, Hines D, Mueller JS, Horvath R

Human molecular genetics 2025; (34(11)):967-977 doi:10.1093/hmg/ddaf047.

Chronic Progressive External Ophthalmoplegia (CPEO): Rehabilitation utilizing scleral contact lenses.

Erdinest N, Shemesh N, London N, et al.

American journal of ophthalmology case reports 2025; (39()):102411 doi:10.1016/j.ajoc.2025.102411.

Ophthalmological signs and sensorimotor evaluation in mitochondrial chronic progressive external ophthalmoplegia: a multidisciplinary prospective study.

Savino G, Giannuzzi F, Cima V, et al.

BMC ophthalmology 2025; (25(1)):520 doi:10.1186/s12886-025-04194-6.

Juvenile/adult-onset POLG-related disease unmasked by valproate-associated fulminant hepatic failure.

Mathavan A, Rathi K, Mundhra LJ, Mathavan A

BMJ case reports 2025; (18(12)) doi:10.1136/bcr-2025-269373.

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.

Martín-Jimenez P, Bermejo-Guerrero L, Ochoa LE, et al.

Journal of inherited metabolic disease 2026; (49(1)):e70147 doi:10.1002/jimd.70147.

Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency.

Hirano M, Garone C, Haas R, et al.

Brain communications 2026; (8(3)):fcag201 doi:10.1093/braincomms/fcag201.

Acute Liver Failure following Valproate Exposure in a Teenager with Homozygous POLG c.2243G>C (p.Trp748Ser) Mutation: Late-Onset Presentation and Successful Liver Transplantation - A Case Report.

Bingol I, Umur O, Sık SG, et al.

Molecular syndromology 2026; doi:10.1159/000552241.