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Ophthalmic Genetics Volume 37, 2016 - Issue 4
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Case Reports

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5

Hana KolarovaDepartment of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech RepublicView further author information
,
Petra LiskovaLaboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic;Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech RepublicView further author information
,
Marketa TesarovaDepartment of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech RepublicView further author information
,
Vendula Kucerova VidrovaDepartment of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech RepublicView further author information
,
Martin ForgacDepartment of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech RepublicView further author information
,
Josef ZamecnikDepartment of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol in Prague, Czech RepublicView further author information
,
Hana HansikovaDepartment of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech RepublicView further author information
&
Tomas HonzikDepartment of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech RepublicCorrespondence[email protected]
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Pages 419-423 | Received 11 Apr 2015, Accepted 05 Sep 2015, Published online: 19 Feb 2016

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Dita Pelnena, Birute Burnyte, Eriks Jankevics, Baiba Lace, Evelina Dagyte, Kristina Grigalioniene, Algirdas Utkus, Zita Krumina, Jolanta Rozentale, Irina Adomaitiene, Janis Stavusis, Liana Pliss & Inna Inashkina. (2018) Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome. Mitochondrial DNA Part A 29:7, pages 1115-1120.
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Articles from other publishers (8)

Feixiang Bao, Lingyan Zhou, Jiahui Xiao & Xingguo Liu. (2022) Mitolysosome exocytosis: a novel mitochondrial quality control pathway linked with parkinsonism-like symptoms. Biochemical Society Transactions 50:6, pages 1773-1783.
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Tereza Danhelovska, Hana Kolarova, Jiri Zeman, Hana Hansikova, Manuela Vaneckova, Lukas Lambert, Vendula Kucerova-Vidrova, Kamila Berankova, Tomas Honzik & Marketa Tesarova. (2020) Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I. BMC Pediatrics 20:1.
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Lee‐Jun C. Wong, Ting Chen, Eric S. Schmitt, Jing Wang, Sha Tang, Megan Landsverk, Fangyuan Li, Shulin Zhang, Yue Wang, Victor W. Zhang & William J. Craigen. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants. Human Mutation 41:10, pages 1783-1796.
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Ana Carolina P. Cruz, Adriano Ferrasa, Alysson R. Muotri & Roberto H. Herai. (2019) Frequency and association of mitochondrial genetic variants with neurological disorders. Mitochondrion 46, pages 345-360.
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Eleonora Mauri, Robertino Dilena, Antonio Boccazzi, Dario Ronchi, Daniela Piga, Fabio Triulzi, Delia Gagliardi, Roberta Brusa, Irene Faravelli, Nereo Bresolin, Francesca Magri, Stefania Corti & Giacomo P. Comi. (2018) Subclinical Leber’s hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye. BMC Neurology 18:1.
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Akihito Hao, Takuto Hideyama, Junko Katsumata, Tomonari Seki, Masaki Tanaka, Akiko Yamagami, Jun Shimizu & Yasushi Shiio. (2018) A case of late‐onset Leber's hereditary optic neuropathy with elevated serum lactic acid and pyruvic acid levels by cycle ergometer exercise. Neurology and Clinical Neuroscience 6:6, pages 179-181.
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Heather G. Mack, Dan Milea, Dominic Thyagarajan & Xavier Fagan. (2018) Transient bilateral optic disc oedema in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Canadian Journal of Ophthalmology 53:5, pages e208-e211.
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Céline Bris, Valérie Desquiret-Dumas, Naig Gueguen, Patrizia Amati-Bonneau, Pascal Reynier & Vincent Procaccio. (2018) Pathologies liées à des mutations de l’ADN mitochondrial. Revue Francophone des Laboratoires 2018:505, pages 71-80.
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