Associated Papers
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Gupta R et al.
Nature, 2023
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Gupta R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.
Aggarwal A et al.
American Journal of Medical Genetics. Part A, 2022
Multisystem presentation of a homozygous POLG2 variant.
Finsterer J
European Journal of Medical Genetics, 2020
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability.
Ahmed N et al.
International Journal of Molecular Sciences, 2015
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L et al.
Archives of Pathology & Laboratory Medicine, 2011
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
Wang W et al.
Nucleic Acids Research, 2011
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.
Walter MC et al.
Journal of Neurology, 2010
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Chan SS et al.
Biochimica Et Biophysica Acta, 2009
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
Ferraris S et al.
Archives of Neurology, 2008
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