Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

Autor: Ivanov IS; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria., Azmanov DN; Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia; Department of Diagnostic Genomics, PathWest, Perth, Australia., Ivanova MB; National Genetic Laboratory, Medical University-Sofia, Bulgaria., Chamova T; Department of Neurology, Medical University-Sofia, Bulgaria., Pacheva IH; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria., Panova MV; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria., Song S; The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Australia., Morar B; Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia., Yordanova RV; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria., Galabova FK; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria., Sotkova IG; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria., Linev AJ; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria., Bitchev S; National Genetic Laboratory, Medical University-Sofia, Bulgaria., Shearwood AM; Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia., Kancheva D; Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Belgium; Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Bulgaria., Gabrikova D; Department of Biology, Faculty of Humanities and Natural Sciences, University of Presov, Slovakia., Karcagi V; Department of Molecular Genetics and Diagnostics, NIEH, Budapest, Hungary., Guergueltcheva V; Department of Neurology, Medical University-Sofia, Bulgaria., Geneva IE; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria., Bozhinova V; Department of Neurology, Medical University-Sofia, Bulgaria., Stoyanova VK; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria., Kremensky I; National Genetic Laboratory, Medical University-Sofia, Bulgaria., Jordanova A; Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Belgium; Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Bulgaria., Savov A; National Genetic Laboratory, Medical University-Sofia, Bulgaria., Horvath R; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Brown MA; The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Australia., Tournev I; Department of Neurology, Medical University-Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria., Filipovska A; Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia; School of Chemistry and Biochemistry, The University of Western Australia, Perth, Australia., Kalaydjieva L; Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia. Electronic address: luba.kalaydjieva@perkins.uwa.edu.au.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2014 Sep-Oct; Vol. 113 (1-2), pp. 76-83. Date of Electronic Publication: 2014 Jul 21.