Gert Van Goethem
Affiliation: University of Antwerp
- Progressive external ophthalmoplegia and multiple mitochondrial DNA deletionsGert Van Goethem
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB 8, University of Antwerp UIA
Acta Neurol Belg 102:39-42. 2002..We also identified POLG mutations in two families with arPEO, which underlines the crucial role of the mtDNA replication machinery for mtDNA maintenance...
- Mitochondrial mosaics in the liver of 3 infants with mtDNA defectsFrank Roels
Department of Pathology, Ghent University Hospital, Block A, De Pintelaan 185, 9000 Gent, Belgium
BMC Clin Pathol 9:4. 2009..Tentative explanations for the mitochondrial mosaics are, in one patient, unequal partition of mutated mitochondria during mitoses, and in two others, an interaction between products of several genes required for mtDNA maintenance...
- POLG mutations in neurodegenerative disorders with ataxia but no muscle involvementG Van Goethem
Division of Neurology and the Neuromuscular Reference Center, University Hospital, Antwerpen, Belgium
Neurology 63:1251-7. 2004..To identify POLG mutations in patients with sensory ataxia and CNS features...
- Autosomal disorders of mitochondrial DNA maintenanceGert Van Goethem
Division of Neurology and Neuromuscular Reference Center, University Hospital Antwerpen, Belgium
Acta Neurol Belg 106:66-72. 2006..However clinical heterogeneity results in different neurological syndromes with considerable overlap. The most common features are PEO, neuropathy, myopathy, ataxia, epilepsy and hepatopathy...
- Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classificationGert Van Goethem
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, Born Bunge Foundation BBS, University of Antwerp UIA, Antwerpen, Belgium
Neuromolecular Med 3:129-46. 2003..Since clinical presentations are heterogeneous and overlap with different previously described clinical syndromes, we advocate the use of a genetic, instead of a clinical, classification of disorders with multiple mtDNA deletions...
- Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathyGert Van Goethem
Neuromuscular Reference Center and Department of Neurology, University Hospital of Antwerp UZA, Antwerpen, Belgium
Eur J Hum Genet 11:547-9. 2003..The third mutation was previously reported as a recessive POLG mutation (T251I). This finding indicates the need for POLG sequencing in patients with features of MNGIE without TP mutations...
- Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/TwinkleGert Van Goethem
Hum Mutat 22:175-6. 2003
- Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNASjoerd Wanrooij
Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
Nucleic Acids Res 32:3053-64. 2004..Deletion breakpoint analysis showed frequent breakpoints around homopolymeric runs, which could be a signature of replication stalling. Therefore, we propose replication stalling as the principal cause of deletion formation...
- Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European foundersAnna H Hakonen
Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
Eur J Hum Genet 15:779-83. 2007..They have effectively spread to populations of European descent with carrier frequencies up to 1% in several populations. Our data predict that these mutations are common causes of ataxia and Alpers disease in the Western world...