1,031 results match your criteria Metabolic Disease and Stroke - MELAS


The Spectrum of Maculopathy in Mitochondrial DNA A3243G Mutation: A Case Series of Six Patients.

Klin Monbl Augenheilkd 2021 Apr 30;238(4):414-417. Epub 2021 Apr 30.

Ophthalmology, Jules Gonin Eye Hospital, Lausanne, Switzerland.

Background: The mitochondrial DNA (mtDNA) A3243G point mutation encompasses a heterogenous group of disorders including mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), and, rarely, chronic progressive external ophthalmoplegia (CPEO). Regardless of the clinical phenotype, a specific retinopathy has been associated with the presence of this mitochondrial DNA mutation. We present six female patients exhibiting retinopathy of the A3243G point mutation at various stages. Read More

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Lifestyle Changes Normalize Serum Lactate Levels in an m.3243A>G Carrier.

Authors:
Josef Finsterer

Am J Case Rep 2021 Apr 19;22:e930175. Epub 2021 Apr 19.

Neurological Department, Landstrasse Clinic, Messerli Institute, Vienna, Austria.

BACKGROUND The normalization of serum lactate levels in a patient with non-syndromic mitochondrial disorder due to the m.3243A>G mitochondrial DNA (mtDNA) variant has not been previously reported. CASE REPORT A 57-year-old woman was diagnosed with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) due to the m. Read More

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Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome in pregnancy.

BMJ Case Rep 2021 Apr 7;14(4). Epub 2021 Apr 7.

Wessex Fetal Medicine Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK.

The syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare mitochondrial disease with few documented cases in pregnancy. In this case report, we discuss the presentation and management of a 39-year-old grand multiparous lady with MELAS syndrome, which was diagnosed prior to her eighth pregnancy, discuss potential implications of the condition in pregnancy and summarise the current guidelines for the management of this rare condition. Read More

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Management considerations for stroke-like episodes in MELAS with concurrent COVID-19 infection.

J Neurol 2021 Apr 1. Epub 2021 Apr 1.

Center for Neuroscience and Behavioral Medicine, Children's National Hospital, Washington, DC, USA.

There have been considerations since the beginning of the Coronavirus pandemic that COVID-19 infection, like any other viral illness, can trigger neurological and metabolic decompensation in patients with mitochondrial diseases. At the time of writing, there were no published reports reviewing experiences and guidelines about management of COVID-19 infection in this patient population. We present a challenging case of an adult patient with a known diagnosis of Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS) complicated by COVID-19 infection. Read More

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[Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes(MELAS)].

No Shinkei Geka 2021 Mar;49(2):349-355

Department of Radiology, Kanagawa Children's Medical Center.

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes(MELAS)is the most dominant form of mitochondrial diseases, presenting with headaches, seizures, and stroke-like episodes. Stroke-like episodes is a distinguishing feature of MELAS. Symptoms appear before the age of 20 years in 65-76% of patients. Read More

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Taurine rescues mitochondria-related metabolic impairments in the patient-derived induced pluripotent stem cells and epithelial-mesenchymal transition in the retinal pigment epithelium.

Redox Biol 2021 May 28;41:101921. Epub 2021 Feb 28.

Laboratory of Retinal Cell Biology, Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjukuku, Tokyo, 160-8582, Japan; Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjukuku, Tokyo, 160-8582, Japan; Department of Ophthalmology, St. Luke's International Hospital, 9-1 Akashi-cho, Chuo-ku, Tokyo, 104-8560, Japan; St. Luke's International University, 9-1 Akashi-cho, Chuo-ku, Tokyo, 104-8560, Japan. Electronic address:

Mitochondria participate in various metabolic pathways, and their dysregulation results in multiple disorders, including aging-related diseases. However, the metabolic changes and mechanisms of mitochondrial disorders are not fully understood. Here, we found that induced pluripotent stem cells (iPSCs) from a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) showed attenuated proliferation and survival when glycolysis was inhibited. Read More

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[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases].

Ann Biol Clin (Paris) 2021 Feb;79(1):28-40

Département de génétique médicale, Centre de référence des maladies mitochondriales, CHU de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France.

The molecular study of mitochondrial diseases, essential for diagnosis, is special due to the dual genetic origin of these pathologies: mitochondrial DNA and nuclear DNA. Complete mtDNA sequencing still remains the first line diagnostic test followed if negative, by resequencing panels of several hundred mitochondrially-encoded nuclear genes. This strategy, with an initial entire mtDNA sequencing, is currently justified by the presence of nuclear mitochondrial DNA sequences (NUMTs) in the nuclear genome. Read More

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February 2021

L-Arginine Reduces Nitro-Oxidative Stress in Cultured Cells with Mitochondrial Deficiency.

Nutrients 2021 Feb 6;13(2). Epub 2021 Feb 6.

Department of Neurology and Neurosurgery, Escola Paulista de Medicina, Universidade Federal de São Paulo, Sao Paulo 04039-032, Brazil.

L-Arginine (L-ARG) supplementation has been suggested as a therapeutic option in several diseases, including Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like syndrome (MELAS), arguably the most common mitochondrial disease. It is suggested that L-ARG, a nitric oxide (NO) precursor, can restore NO levels in blood vessels, improving cerebral blood flow. However, NO also participates in mitochondrial processes, such as mitochondrial biogenesis, the regulation of the respiratory chain, and oxidative stress. Read More

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February 2021

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.

J Neurol 2021 Jan 23. Epub 2021 Jan 23.

Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education, Manipal, India.

Background: Mitochondrial disorders are clinically complex and have highly variable phenotypes among all inherited disorders. Mutations in mitochon drial DNA (mtDNA) and nuclear genome or both have been reported in mitochondrial diseases suggesting common pathophysiological pathways. Considering the clinical heterogeneity of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) phenotype including focal neurological deficits, it is important to look beyond mitochondrial gene mutation. Read More

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January 2021

One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.

Metabolomics 2021 01 12;17(1):10. Epub 2021 Jan 12.

Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa.

Introduction: The m.3243A > G mitochondrial DNA mutation is one of the most common mitochondrial disease-causing mutations, with a carrier rate as high as 1:400. This point mutation affects the MT-TL1 gene, ultimately affecting the oxidative phosphorylation system and the cell's energy production. Read More

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January 2021

Molecular imaging for mitochondrial metabolism and oxidative stress in mitochondrial diseases and neurodegenerative disorders.

Biochim Biophys Acta Gen Subj 2021 03 25;1865(3):129832. Epub 2020 Dec 25.

Biomedical Imaging Research Center, University of Fukui, Fukui, Japan; Faculty of Nursing and Social Welfare Science, Fukui Prefectural University, Fukui, Japan.

Background: Increasing evidence from pathological and biochemical investigations suggests that mitochondrial metabolic impairment and oxidative stress play a crucial role in the pathogenesis of mitochondrial diseases, such as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, and various neurodegenerative disorders. Recent advances in molecular imaging technology with positron emission tomography (PET) and functional magnetic resonance imaging (MRI) have accomplished a direct and non-invasive evaluation of the pathophysiological changes in living patients.

Scope Of Review: In this review, we focus on the latest achievements of molecular imaging for mitochondrial metabolism and oxidative stress in mitochondrial diseases and neurodegenerative disorders. Read More

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Reply: MELAS can be delineated from CADASIL by genotype and phenotype.

Neurobiol Aging 2021 03 12;99:104. Epub 2020 Nov 12.

Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan; Brain Research Center, National Yang-Ming University, Taipei, Taiwan. Electronic address:

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Mitochondrial Nuclear Retrograde Regulator 1 (MNRR1) rescues the cellular phenotype of MELAS by inducing homeostatic mechanisms.

Proc Natl Acad Sci U S A 2020 12 30;117(50):32056-32065. Epub 2020 Nov 30.

Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201;

MNRR1 (CHCHD2) is a bi-organellar regulator of mitochondrial function that directly activates cytochrome oxidase in the mitochondria and functions in the nucleus as a transcriptional activator for hundreds of genes. Since MNRR1 depletion contains features of a mitochondrial disease phenotype, we evaluated the effects of forced expression of MNRR1 on the mitochondrial disease MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) syndrome. MELAS is a multisystem encephalomyopathy disorder that can result from a heteroplasmic mutation in the mitochondrial DNA (mtDNA; m. Read More

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December 2020

Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome.

Eur J Endocrinol 2020 Nov;183(5):505-512

Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.

Objective: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a very rare condition; it encompasses a diverse group of disorders including diabetes. Phenotypic variability can be attributed to heteroplasmy along with varying proportions of mutant and WT mitochondrial DNA (mtDNA). To examine the clinical relationship between mitochondrial diabetes and mutational load, we analyzed the mtDNA of children and young adolescents with MELAS syndrome using next generation sequencing (NGS). Read More

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November 2020

Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines.

Curr Opin Pediatr 2020 12;32(6):707-718

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia.

Purpose Of Review: Primary mitochondrial disease is a highly heterogeneous but collectively common inherited metabolic disorder, affecting at least one in 4300 individuals. Therapeutic management of mitochondrial disease typically involves empiric prescription of enzymatic cofactors, antioxidants, and amino acid and other nutrient supplements, based on biochemical reasoning, historical experience, and consensus expert opinion. As the field continues to rapidly advance, we review here the preclinical and clinical evidence, and specific dosing guidelines, for common mitochondrial medicine therapies to guide practitioners in their prescribing practices. Read More

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December 2020

[Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation].

Beijing Da Xue Xue Bao Yi Xue Ban 2020 Oct;52(5):851-855

Objective: Mitochondrial deoxyribonucleic acid (mtDNA) 8344 A>G (m.8344A>G) mutation is the common mutation associated with mitochondrial myoclonus epilepsy with ragged-red fibers (MERRF) syndrome. Herein we report a rare case with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes/MERRF/Leigh (MELAS/MERRF/Leigh) overlap syndrome caused by m. Read More

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October 2020

Aphasic status epilepticus in a tertiary referral center in Turkey: Clinical features, etiology, and outcome.

Epilepsy Res 2020 11 29;167:106479. Epub 2020 Sep 29.

Department of Neurology, School of Medicine, University of Hacettepe, Ankara, Turkey. Electronic address:

Objective: Aphasic status epilepticus (ASE), although rare, may often remain underdiagnosed. We aimed to report the patients diagnosed with ASE and describe their clinical presentation, etiology, electrophysiological findings, neuroimaging, treatment options, and outcome.

Methods: We retrospectively analyzed a series of 28 patients diagnosed with ASE between January 2010 and August 2019 in our tertiary referral center. Read More

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November 2020

L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome.

PLoS One 2020 3;15(9):e0238224. Epub 2020 Sep 3.

Division of Neurology, Dept. of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Objective: We previously showed that MELAS patients have decreased cerebrovascular reactivity (CVR) (p≤ 0.002) and increased cerebral blood flow (CBF) (p<0.0026); changes correlated with disease severity and % mutant mtDNA (inversely for CVR; directly for CBF). Read More

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October 2020

Altered Dynamic Functional Connectivity in Patients With Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) at Acute and Chronic Stages: Shared and Specific Brain Connectivity Abnormalities.

J Magn Reson Imaging 2021 02 31;53(2):427-436. Epub 2020 Aug 31.

Department of Radiology, HuaShan Hospital, Fudan University, Shanghai, China.

Background: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a rare maternally inherited genetic disease; however, little is known about its underlying brain basis. Furthermore, the dynamic functional connectivity (dFC) of brain networks in MELAS has not been explored.

Purpose: To investigate the abnormalities of dFC in patients with MELAS at the acute and chronic stages, and to determine the possible relations between dynamic connectivity alterations and volumes of stroke-like lesions (SLLs). Read More

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February 2021

Expanding and validating the biomarkers for mitochondrial diseases.

J Mol Med (Berl) 2020 10 26;98(10):1467-1478. Epub 2020 Aug 26.

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.

Mitochondrial diseases are highly heterogeneous metabolic disorders caused by genetic alterations in the mitochondrial DNA (mtDNA) or in the nuclear genome. In this study, we investigated a panel of blood biomarkers in a cohort of 123 mitochondrial patients, with prominent neurological and muscular manifestations. These biomarkers included creatine, fibroblast growth factor 21 (FGF21) and growth/differentiation factor 15 (GDF-15), and the novel cell free circulating-mtDNA (ccf-mtDNA). Read More

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October 2020

Wernicke-Korsakoff syndrome associated with mtDNA disease.

Ther Adv Neurol Disord 2020 30;13:1756286420938972. Epub 2020 Jul 30.

Semmelweis University of Medicine, Üllői 26, Budapest, 1085, Hungary.

Introduction: Wernicke encephalopathy (WE) and Wernicke-Korsakoff syndrome (WKS) are well-known disorders caused by thiamine deficiency. In addition to the classical concept of these diseases, some literature data suggest a connection between mitochondrial dysfunction and WE/WKS. Psychotic disorders and WKS seem to run in families, as the deficiency of the oxidative phosphorylation can be a trigger factor in psychotic events and WE/WKS as well. Read More

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Catatonia as prominent feature of stroke-like episode in MELAS.

Neurol Sci 2021 01 6;42(1):383-385. Epub 2020 Aug 6.

Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.

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January 2021

Sudden Unexpected Death in MELAS Syndrome Due to Diabetic Ketoacidosis.

Am J Forensic Med Pathol 2020 Dec;41(4):331-332

From the Department of Laboratory Medicine and Pathology, Mayo Clinic.

We present a case report of a 25 year-old man with MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome, who died suddenly and unexpectedly from diabetic ketoacidosis. This case report illustrates why it is important for medical examiners to be familiar with the clinical and autopsy features of MELAS syndrome and to be aware of the common complications, which may lead to sudden unexpected death. Read More

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December 2020

Altered spontaneous brain activity at attack and remission stages in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): Beyond stroke-like lesions.

Mitochondrion 2020 09 15;54:49-56. Epub 2020 Jul 15.

Department of Radiology, HuaShan Hospital, Fudan University, Shanghai 200040, China; Institute of Functional and Molecular Medical Imaging, Fudan University, Shanghai 200040, China. Electronic address:

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) may cause whole-brain functional changes due to mitochondrial dysfunction. Our purpose is to comprehensively evaluate the alterations of spontaneous brain activity in MELAS patients at stroke-like episodes (SLE) attack and remission stages using resting-state functional magnetic resonance imaging. Forty MELAS patients at attack stage (n = 20) and remission stage (n = 20) and 22 healthy controls were enrolled in this study. Read More

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September 2020

Intracranial calcifications in childhood: Part 2.

Pediatr Radiol 2020 09 8;50(10):1448-1475. Epub 2020 Jul 8.

Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA.

This article is the second of a two-part series on intracranial calcification in childhood. In Part 1, the authors discussed the main differences between physiological and pathological intracranial calcification. They also outlined histological intracranial calcification characteristics and how these can be detected across different neuroimaging modalities. Read More

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September 2020

A MELAS Patient Developing Fatal Acute Renal Failure with Lactic Acidosis and Rhabdomyolysis.

Intern Med 2020 Nov 7;59(21):2773-2776. Epub 2020 Jul 7.

Department of Neurology, Shonan Fujisawa Tokushukai Hospital, Japan.

We herein present a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), who developed serious acute renal failure with lactic acidosis, followed by rhabdomyolysis. Despite receiving intensive care, he suffered multiple cardiopulmonary arrests and died 10 days after presentation due to a sudden deterioration of his symptoms. Renal pathology revealed diffuse tubular necrosis with interstitial edema and tubular dilatation on light microscopy, and a severe degeneration of intracellular organelles on electron microscopy. Read More

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November 2020

Headache in cerebrovascular diseases.

Stroke Vasc Neurol 2020 06 26;5(2):205-210. Epub 2020 Mar 26.

Neurology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China

Headache is a common accompanying symptom of cerebrovascular diseases. The most common patterns of headache for different cerebrovascular disorders, aetiology and pathogenesis and diagnostic workup are reviewed with emphasis on distinguishing characteristics. It will be a clinical guide for physicians who treat patients with headache or cerebral vascular disease. Read More

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The mitochondrial derived peptide humanin is a regulator of lifespan and healthspan.

Aging (Albany NY) 2020 06 23;12(12):11185-11199. Epub 2020 Jun 23.

Leonard Davis School of Gerontology, University of Southern California, Los Angeles, CA 90089, USA.

Humanin is a member of a new family of peptides that are encoded by short open reading frames within the mitochondrial genome. It is conserved in animals and is both neuroprotective and cytoprotective. Here we report that in the overexpression of humanin is sufficient to increase lifespan, dependent on . Read More

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Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome: A case-report and literature review (CARE-complaint).

Medicine (Baltimore) 2020 Jun;99(24):e20310

Department of neurological rehabilitation, The Third People's Hospital of Qingdao.

Rationale: Mitochondrial encephalomyopathy with lactic acidosis and stroke- like episodes (MELAS) syndrome is caused by mitochondrial respiratory chain dysfunction and oxidative phosphorylation disorder. It is a rare clinical metabolic disease involved with multiple systems.

Patient Concerns: A 22-year-old patient presented with limb convulsion accompanied by loss of consciousness, headache, partial blindness, blurred vision, and so on. Read More

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High rate of hypertension in patients with m.3243A>G MELAS mutations and POLG variants.

Mitochondrion 2020 07 2;53:194-202. Epub 2020 Jun 2.

Biomedical Physiology & Kinesiology, Simon Fraser University, Burnaby, Canada; Centre for Cell Biology, Development, and Disease, Simon Fraser University, Burnaby, BC, Canada. Electronic address:

Animal studies suggest that decreased vascular mitochondrial DNA copy number can promote hypertension. We conducted a chart review of blood pressure and hemodynamics in patients with either mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS, n = 36) or individuals with variants in the mitochondrial DNA polymerase gamma (POLG, n = 26). The latter included both pathogenic variants and variants of unknown significance (VUS). Read More

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