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Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.

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Title: Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.
Authors: Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Walczak A; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Łaźniewski M; Centre of New Technologies, University of Warsaw, Warsaw, Poland., Kosińska J; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Stawiński P; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Murcia Pienkowski V; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland., Biernacka A; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland., Rydzanicz M; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Kostrzewa G; Department of Forensic Medicine, Warsaw Medical University, Warsaw, Poland., Krajewski P; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland., Plewczyński D; Centre of New Technologies, University of Warsaw, Warsaw, Poland.; Faculty of Mathematics and Information Science, Warsaw University of Technology, Warsaw, Poland., Płoski R; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Source: Clinical genetics [Clin Genet] 2019 Jun; Vol. 95 (6), pp. 736-738. Date of Electronic Publication: 2019 Mar 28.
Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.
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  Data: <searchLink fieldCode="AU" term="%22Jezela-Stanek+A%22">Jezela-Stanek A</searchLink>; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Walczak+A%22">Walczak A</searchLink>; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Łaźniewski+M%22">Łaźniewski M</searchLink>; Centre of New Technologies, University of Warsaw, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Kosińska+J%22">Kosińska J</searchLink>; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Stawiński+P%22">Stawiński P</searchLink>; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Murcia+Pienkowski+V%22">Murcia Pienkowski V</searchLink>; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Biernacka+A%22">Biernacka A</searchLink>; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Rydzanicz+M%22">Rydzanicz M</searchLink>; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Kostrzewa+G%22">Kostrzewa G</searchLink>; Department of Forensic Medicine, Warsaw Medical University, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Krajewski+P%22">Krajewski P</searchLink>; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Plewczyński+D%22">Plewczyński D</searchLink>; Centre of New Technologies, University of Warsaw, Warsaw, Poland.; Faculty of Mathematics and Information Science, Warsaw University of Technology, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Płoski+R%22">Płoski R</searchLink>; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2019 Jun; Vol. 95 (6), pp. 736-738. <i>Date of Electronic Publication: </i>2019 Mar 28.
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  Data: Case Reports; Letter; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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