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From bedside to bench: A multimodal approach uncovering the molecular basis of the MYBPC1-linked Myotrem myopathy.

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Title: From bedside to bench: A multimodal approach uncovering the molecular basis of the MYBPC1-linked Myotrem myopathy.
Authors: Iyer AS; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201., Wright NT; Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, VA 22807., Cook ME; The Center for Biomolecular Therapeutics, Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201., Takagi Y; Laboratory of Molecular Physiology, Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892., Johnson BA; Structural Biology Initiative, The City University of New York Advanced Science Research Center, New York, NY 10031., Biancalana V; Laboratory of Genetic Diagnosis, Faculty of Medicine, Centre Hospitalier Régional Universitaire, Strasbourg 67091, France., Massier M; Department of Genetics, Reims University Hospital, Reims 51092, France., Spodenkiewicz M; Department of Genetics, Reims University Hospital, Reims 51092, France., Poirsier C; Department of Genetics, Reims University Hospital, Reims 51092, France., Vallecillo B; Neuromuscular diseases Reference Center, Department of Physical and Rehabilitation Medicine, Reims University Hospital, Sebastopol Hospital, Centre Hospitalier Universitaire de Reims, UR3797, VieFra, Reims Champagne-Ardenne University, Reims 51092, France., Constant Boyer F; Neuromuscular diseases Reference Center, Department of Physical and Rehabilitation Medicine, Reims University Hospital, Sebastopol Hospital, Centre Hospitalier Universitaire de Reims, UR3797, VieFra, Reims Champagne-Ardenne University, Reims 51092, France., Pineau C; Pediatric Electrophysiology Department, Reims University Hospital, Reims 51092, France., Hensley L; Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, VA 22807., Sellers JR; Laboratory of Molecular Physiology, Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892., Varney KM; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201.; The Center for Biomolecular Therapeutics, Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201., Weber DJ; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201.; The Center for Biomolecular Therapeutics, Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201.; Institute for Bioscience and Biotechnology Research, Rockville, MD 20850., Kontrogianni-Konstantopoulos A; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201.
Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2026 Jun 09; Vol. 123 (23), pp. e2529897123. Date of Electronic Publication: 2026 Jun 01.
Publication Type: Journal Article
Journal Info: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE
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  Data: From bedside to bench: A multimodal approach uncovering the molecular basis of the MYBPC1-linked Myotrem myopathy.
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  Data: <searchLink fieldCode="AU" term="%22Iyer+AS%22">Iyer AS</searchLink>; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201.<br /><searchLink fieldCode="AU" term="%22Wright+NT%22">Wright NT</searchLink>; Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, VA 22807.<br /><searchLink fieldCode="AU" term="%22Cook+ME%22">Cook ME</searchLink>; The Center for Biomolecular Therapeutics, Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201.<br /><searchLink fieldCode="AU" term="%22Takagi+Y%22">Takagi Y</searchLink>; Laboratory of Molecular Physiology, Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892.<br /><searchLink fieldCode="AU" term="%22Johnson+BA%22">Johnson BA</searchLink>; Structural Biology Initiative, The City University of New York Advanced Science Research Center, New York, NY 10031.<br /><searchLink fieldCode="AU" term="%22Biancalana+V%22">Biancalana V</searchLink>; Laboratory of Genetic Diagnosis, Faculty of Medicine, Centre Hospitalier Régional Universitaire, Strasbourg 67091, France.<br /><searchLink fieldCode="AU" term="%22Massier+M%22">Massier M</searchLink>; Department of Genetics, Reims University Hospital, Reims 51092, France.<br /><searchLink fieldCode="AU" term="%22Spodenkiewicz+M%22">Spodenkiewicz M</searchLink>; Department of Genetics, Reims University Hospital, Reims 51092, France.<br /><searchLink fieldCode="AU" term="%22Poirsier+C%22">Poirsier C</searchLink>; Department of Genetics, Reims University Hospital, Reims 51092, France.<br /><searchLink fieldCode="AU" term="%22Vallecillo+B%22">Vallecillo B</searchLink>; Neuromuscular diseases Reference Center, Department of Physical and Rehabilitation Medicine, Reims University Hospital, Sebastopol Hospital, Centre Hospitalier Universitaire de Reims, UR3797, VieFra, Reims Champagne-Ardenne University, Reims 51092, France.<br /><searchLink fieldCode="AU" term="%22Constant+Boyer+F%22">Constant Boyer F</searchLink>; Neuromuscular diseases Reference Center, Department of Physical and Rehabilitation Medicine, Reims University Hospital, Sebastopol Hospital, Centre Hospitalier Universitaire de Reims, UR3797, VieFra, Reims Champagne-Ardenne University, Reims 51092, France.<br /><searchLink fieldCode="AU" term="%22Pineau+C%22">Pineau C</searchLink>; Pediatric Electrophysiology Department, Reims University Hospital, Reims 51092, France.<br /><searchLink fieldCode="AU" term="%22Hensley+L%22">Hensley L</searchLink>; Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, VA 22807.<br /><searchLink fieldCode="AU" term="%22Sellers+JR%22">Sellers JR</searchLink>; Laboratory of Molecular Physiology, Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892.<br /><searchLink fieldCode="AU" term="%22Varney+KM%22">Varney KM</searchLink>; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201.; The Center for Biomolecular Therapeutics, Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201.<br /><searchLink fieldCode="AU" term="%22Weber+DJ%22">Weber DJ</searchLink>; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201.; The Center for Biomolecular Therapeutics, Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201.; Institute for Bioscience and Biotechnology Research, Rockville, MD 20850.<br /><searchLink fieldCode="AU" term="%22Kontrogianni-Konstantopoulos+A%22">Kontrogianni-Konstantopoulos A</searchLink>; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201.
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