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Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.
Marakhonov, Andrey V; Brodehl, Andreas; Myasnikov, Roman P; Sparber, Peter A; Kiseleva, Anna V; Kulikova, Olga V; Meshkov, Alexey N; Zharikova, Anastasia A; Koretsky, Serguey N; Kharlap, Maria S; Stanasiuk, Caroline; Mershina, Elena A; Sinitsyn, Valentin E; Shevchenko, Alexey O; Mozheyko, Natalia P; Drapkina, Oksana M; Boytsov, Sergey A; Milting, Hendrik; Skoblov, Mikhail Yu.
Affiliation
  • Marakhonov AV; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics (RCMG), Moscow, Russia.
  • Brodehl A; School of Biomedicine, Far Eastern Federal University, Vladivostok, Russia.
  • Myasnikov RP; Erich and Hanna Klessmann Institute, Heart and Diabetes Centre NRW, University Hospital of the Ruhr-University Bochum, Bad Oeynhausen, Germany.
  • Sparber PA; Department of Clinical Cardiology and Molecular Genetics, Federal State Institution National Center for Preventive Medicine, Moscow, Russia.
  • Kiseleva AV; School of Biomedicine, Far Eastern Federal University, Vladivostok, Russia.
  • Kulikova OV; Laboratory of Molecular Genetics, Federal State Institution National Center for Preventive Medicine, Moscow, Russia.
  • Meshkov AN; Department of Clinical Cardiology and Molecular Genetics, Federal State Institution National Center for Preventive Medicine, Moscow, Russia.
  • Zharikova AA; Department of Molecular and Cellular Genetics, Pirogov Russian National Research Medical University, Moscow, Russia.
  • Koretsky SN; Laboratory of Molecular Genetics, Federal State Institution National Center for Preventive Medicine, Moscow, Russia.
  • Kharlap MS; M.V. Lomonosov Moscow State University, Moscow, Russia.
  • Stanasiuk C; Laboratory of Molecular Genetics, Federal State Institution National Center for Preventive Medicine, Moscow, Russia.
  • Mershina EA; Department of Fundamental and Applied Aspects of Obesity, Federal State Institution National Center for Preventive Medicine, Moscow, Russia.
  • Sinitsyn VE; Cardiac Arrhythmias Department, Federal State Institution National Center for Preventive Medicine, Moscow, Russia.
  • Shevchenko AO; Erich and Hanna Klessmann Institute, Heart and Diabetes Centre NRW, University Hospital of the Ruhr-University Bochum, Bad Oeynhausen, Germany.
  • Mozheyko NP; M.V. Lomonosov Moscow State University, Moscow, Russia.
  • Drapkina OM; Radiology Department, Lomonosov Moscow State University Medical Research and Educational Center, Moscow, Russia.
  • Boytsov SA; M.V. Lomonosov Moscow State University, Moscow, Russia.
  • Milting H; Radiology Department, Lomonosov Moscow State University Medical Research and Educational Center, Moscow, Russia.
  • Skoblov MY; Department of Critical Care Translational Medicine, V.I. Shumakov National Medical Research Center of Transplantology and Artificial Organs, Moscow, Russia.
Hum Mutat ; 40(6): 734-741, 2019 06.
Article in En | MEDLINE | ID: mdl-30908796
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Dilated / Sequence Deletion / Desmin Limits: Adult / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Dilated / Sequence Deletion / Desmin Limits: Adult / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: