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Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.
Dosekova, Petra; Dubiel, Andrzej; Karlowicz, Anna; Zietkiewicz, Szymon; Rydzanicz, Malgorzata; Habalova, Viera; Pienkowski, Victor Murcia; Skirkova, Miriam; Han, Vladimir; Mosejova, Alexandra; Gdovinova, Zuzana; Kaliszewska, Magdalena; Tonska, Katarzyna; Szymanski, Michal R; Skorvanek, Matej; Ploski, Rafal.
Affiliation
  • Dosekova P; Dept. of Neurology, P.J. Safarik University, Kosice, Slovakia; Dept. of Neurology, University Hospital L. Pasteur, Kosice, Slovakia. Electronic address: petradosekova@gmail.com.
  • Dubiel A; Intercollegiate Faculty of Biotechnology of the University of Gdansk and Medical University of Gdansk, Gdansk, Poland.
  • Karlowicz A; Intercollegiate Faculty of Biotechnology of the University of Gdansk and Medical University of Gdansk, Gdansk, Poland.
  • Zietkiewicz S; Intercollegiate Faculty of Biotechnology of the University of Gdansk and Medical University of Gdansk, Gdansk, Poland.
  • Rydzanicz M; Dept. of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Habalova V; Dept. of Medical Biology, P. J. Safarik University, Kosice, Slovakia.
  • Pienkowski VM; Dept. of Medical Genetics, Medical University of Warsaw, Warsaw, Poland; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
  • Skirkova M; Dept. of Ophtalmology, P. J. Safarik University and University Hospital L. Pasteur, Kosice, Slovakia.
  • Han V; Dept. of Neurology, P.J. Safarik University, Kosice, Slovakia; Dept. of Neurology, University Hospital L. Pasteur, Kosice, Slovakia.
  • Mosejova A; Dept. of Neurology, P.J. Safarik University, Kosice, Slovakia; Dept. of Neurology, University Hospital L. Pasteur, Kosice, Slovakia.
  • Gdovinova Z; Dept. of Neurology, P.J. Safarik University, Kosice, Slovakia; Dept. of Neurology, University Hospital L. Pasteur, Kosice, Slovakia.
  • Kaliszewska M; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Warsaw, Poland.
  • Tonska K; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Warsaw, Poland.
  • Szymanski MR; Intercollegiate Faculty of Biotechnology of the University of Gdansk and Medical University of Gdansk, Gdansk, Poland.
  • Skorvanek M; Dept. of Neurology, P.J. Safarik University, Kosice, Slovakia; Dept. of Neurology, University Hospital L. Pasteur, Kosice, Slovakia.
  • Ploski R; Dept. of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. Electronic address: rploski@wp.pl.
Eur J Med Genet ; 63(4): 103821, 2020 Apr.
Article in En | MEDLINE | ID: mdl-31778857
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polyneuropathies / DNA, Mitochondrial / Optic Atrophy / Primary Ovarian Insufficiency / DNA-Directed DNA Polymerase / Movement Disorders Type of study: Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polyneuropathies / DNA, Mitochondrial / Optic Atrophy / Primary Ovarian Insufficiency / DNA-Directed DNA Polymerase / Movement Disorders Type of study: Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article