ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 61 citations in OpenAlex.
- Late-onset PSP/FTD-like atypical parkinsonism as a novel phenotype of POLG-related disease: a case report.Acta neurologica Belgica · 2026Article
- Karnofsky performance scale and modified Rankin scale as indicators of functional capacity in patients with mitochondrial disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- POLG-related disorders: Clinical and molecular Spectrum in the Saudi population.Molecular genetics and metabolism reports · 2026Article
- EEG, clinical, and MRI features of status epilepticus associated with mitochondrial diseases.Journal of neurology · 2026Article
- Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.Brain : a journal of neurology · 2025Article
- Mitochondrial diseases: from molecular mechanisms to therapeutic advances.Signal transduction and targeted therapy · 2025Review
- Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.International journal of molecular sciences · 2024Article
- Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.Neurology. Genetics · 2024Article
- Status epilepticus in POLG disease: a large multinational study.Journal of neurology · 2024Article
- Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.Annals of clinical and translational neurology · 2024Article
- Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation.The Biochemical journal · 2024Review
- Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report.Journal of central nervous system disease · 2024Article
- A case of mitochondrial myopathy and chronic progressive external ophthalmoplegia.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2023Article
- Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using YeastInternational journal of molecular sciences · 2023Review
- The Y831C Mutation of theBiomedicines · 2023Article
- Pathological and Therapeutic Advances in Parkinson's Disease: Mitochondria in the Interplay.Journal of Alzheimer's disease : JAD · 2023Review
- Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.Journal of medical genetics · 2023Article
- Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.Molecular genetics & genomic medicine · 2022Review
- Mitochondrial protein dysfunction in pathogenesis of neurological diseases.Frontiers in molecular neuroscience · 2022Review
- Review
Corrections and comments
- Erratum issued
Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
Abstract
PurposeMutations in POLG, the most common single-gene cause of inherited mitochondrial disease, are diagnostically challenging owing to clinical heterogeneity and overlap between syndromes. We aimed to improve the clinical recognition of POLG-related disorders in the pediatric population.MethodsWe performed a multinational, phenotype: genotype study using patients from three centers, two Norwegian and one from the United Kingdom. Patients with age at onset <12 years and confirmed pathogenic biallelic POLG mutations were considered eligible.ResultsA total of 27 patients were identified with a median age at onset of 11 months (range 0.6-80.4). The majority presented with global developmental delay (n=24/24, 100%), hypotonia (n=22/23, 96%) and faltering growth (n=24/27, 89%). Epilepsy was common, but notably absent in patients with the myocerebrohepatopathy spectrum phenotype. We identified two novel POLG gene mutations.ConclusionOur data suggest that POLG-related disease should be suspected in any child presenting with diffuse neurological symptoms. Full POLG sequencing is recommended since targeted screening may miss mutations. Finally, we simplify the classification of POLG-related disease in children using epilepsy as the crucial defining element; we show that Alpers and myocerebrohepatopathy spectrum follow different outcomes and that they manifest different degrees of respiratory chain dysfunction.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.