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Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

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Title: Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.
Authors: Labella B; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France., Brochier G; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.; Neuropathology Unit, Department of Neuropathology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France., Beuvin M; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France., Lacene E; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France., Chanut A; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France., Madelaine A; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France., Labasse C; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France., Méneret A; Neurology Unit, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France., Roos A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany., Kölbel H; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany., Levine A; Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Svahn J; Pathophysiology and Genetics of Neuron and Muscle, CNRS UMR 5261, INSERM U1315, University of Lyon 1, Faculté de Médecine Lyon Est, Lyon, France.; Neurology Unit, Movement and Neuromuscular Disorders, Pierre-Wertheimer Hospital, Hospital of Lyon, Bron, France., Bouhour F; ENMG and Neuromuscular disorders, Center of Neuromuscular disorders PACA-Réunion-Rhône-Alpes, Pierre-Wertheimer Hospital, Hospital of Lyon, Bron, France.; Faculté de Médecine Rockefeller, Institut NeuroMyoGène-PGNM, Université Claude Bernard Lyon, Lyon, France., Streichenberger N; Faculté de Médecine Rockefeller, Institut NeuroMyoGène-PGNM, Université Claude Bernard Lyon, Lyon, France.; Unit of Neuropathology, Groupement Hospitalier Est, Hospital of Lyon, Bron, France., Nadaj-Pakleza A; Centre de Reference des Maladies Neuromusculaires Nord-Est-Ile de France, Department of Neurology, University Hospital Centre, Strasbourg, France., Malfatti E; Reference Center for Neuromuscular Disorders, Henri Mondor University Hospital, APHP, Créteil, France.; University Paris Est Créteil, Inserm U955, IMRB, Créteil, France., Bassez G; Centre de Reference des Maladies Neuromusculaires, Groupe Hospitalier Universitaire Pitié-Salpêtrière, APHP, Paris, France., Behin A; Centre de Reference des Maladies Neuromusculaires, Groupe Hospitalier Universitaire Pitié-Salpêtrière, APHP, Paris, France., Laforet P; Neurology Department, Raymond Poincaré University Hospital, APHP, Garches, France.; Nord-Est-Ile-de-France Neuromuscular Reference Center, FHU PHENIX, Garches, France.; INSERM U1179, Université Versailles Saint Quentin en Yvelines, Versailles, France., Villar-Quiles RN; Centre de Reference des Maladies Neuromusculaires, Groupe Hospitalier Universitaire Pitié-Salpêtrière, APHP, Paris, France.; Sorbonne University, Myology research center, UMRS 974, Paris, France., Leonard-Louis S; Neuropathology Unit, Department of Neuropathology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.; Centre de Reference des Maladies Neuromusculaires, Groupe Hospitalier Universitaire Pitié-Salpêtrière, APHP, Paris, France., Maisonobe T; Department of Clinical Neurophysiology, Pitié-Salpêtrière University Hospital, Paris, France., Stojkovic T; Centre de Reference des Maladies Neuromusculaires, Groupe Hospitalier Universitaire Pitié-Salpêtrière, APHP, Paris, France., Eymard B; Centre de Reference des Maladies Neuromusculaires, Groupe Hospitalier Universitaire Pitié-Salpêtrière, APHP, Paris, France., Romero NB; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France., Padovani A; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; Neurology Unit, Department of Continuity of Care and Frailty, ASST Spedali Civili Brescia Hospital, Brescia, Italy., Filosto M; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy., Cassandrini D; Immunology Unit, University Hospital, Azienda Ospedaliera Universitaria Integrata, Verona, Verona, Italy., Biancalana V; Laboratoire de Diagnostic Génétique, Faculté de Médecine, CHRU, Strasbourg, France., Rendu J; University Grenoble Alpes, INSERM U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Métay C; Sorbonne University, Myology research center, UMRS 974, Paris, France.; Molecular and cellular Cardiogenetics and Myogenetics Unit, DMU BioGeM, CGMC, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France., Evangelista T; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.; Neuropathology Unit, Department of Neuropathology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.; Sorbonne University, Myology research center, UMRS 974, Paris, France.
Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2026 May; Vol. 13 (3), pp. 388-404. Date of Electronic Publication: 2025 Nov 18.
Publication Type: Journal Article; Systematic Review
Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.
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  Data: <searchLink fieldCode="AU" term="%22Labella+B%22">Labella B</searchLink>; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Brochier+G%22">Brochier G</searchLink>; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.; Neuropathology Unit, Department of Neuropathology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Beuvin+M%22">Beuvin M</searchLink>; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lacene+E%22">Lacene E</searchLink>; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Chanut+A%22">Chanut A</searchLink>; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Madelaine+A%22">Madelaine A</searchLink>; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Labasse+C%22">Labasse C</searchLink>; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Méneret+A%22">Méneret A</searchLink>; Neurology Unit, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Roos+A%22">Roos A</searchLink>; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Kölbel+H%22">Kölbel H</searchLink>; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Levine+A%22">Levine A</searchLink>; Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Yoon+G%22">Yoon G</searchLink>; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Svahn+J%22">Svahn J</searchLink>; Pathophysiology and Genetics of Neuron and Muscle, CNRS UMR 5261, INSERM U1315, University of Lyon 1, Faculté de Médecine Lyon Est, Lyon, France.; Neurology Unit, Movement and Neuromuscular Disorders, Pierre-Wertheimer Hospital, Hospital of Lyon, Bron, France.<br /><searchLink fieldCode="AU" term="%22Bouhour+F%22">Bouhour F</searchLink>; ENMG and Neuromuscular disorders, Center of Neuromuscular disorders PACA-Réunion-Rhône-Alpes, Pierre-Wertheimer Hospital, Hospital of Lyon, Bron, France.; Faculté de Médecine Rockefeller, Institut NeuroMyoGène-PGNM, Université Claude Bernard Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Streichenberger+N%22">Streichenberger N</searchLink>; Faculté de Médecine Rockefeller, Institut NeuroMyoGène-PGNM, Université Claude Bernard Lyon, Lyon, France.; Unit of Neuropathology, Groupement Hospitalier Est, Hospital of Lyon, Bron, France.<br /><searchLink fieldCode="AU" term="%22Nadaj-Pakleza+A%22">Nadaj-Pakleza A</searchLink>; Centre de Reference des Maladies Neuromusculaires Nord-Est-Ile de France, Department of Neurology, University Hospital Centre, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Malfatti+E%22">Malfatti E</searchLink>; Reference Center for Neuromuscular Disorders, Henri Mondor University Hospital, APHP, Créteil, France.; University Paris Est Créteil, Inserm U955, IMRB, Créteil, France.<br /><searchLink fieldCode="AU" term="%22Bassez+G%22">Bassez G</searchLink>; Centre de Reference des Maladies Neuromusculaires, Groupe Hospitalier Universitaire Pitié-Salpêtrière, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Behin+A%22">Behin A</searchLink>; Centre de Reference des Maladies Neuromusculaires, Groupe Hospitalier Universitaire Pitié-Salpêtrière, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Laforet+P%22">Laforet P</searchLink>; Neurology Department, Raymond Poincaré University Hospital, APHP, Garches, France.; Nord-Est-Ile-de-France Neuromuscular Reference Center, FHU PHENIX, Garches, France.; INSERM U1179, Université Versailles Saint Quentin en Yvelines, Versailles, France.<br /><searchLink fieldCode="AU" term="%22Villar-Quiles+RN%22">Villar-Quiles RN</searchLink>; Centre de Reference des Maladies Neuromusculaires, Groupe Hospitalier Universitaire Pitié-Salpêtrière, APHP, Paris, France.; Sorbonne University, Myology research center, UMRS 974, Paris, France.<br /><searchLink fieldCode="AU" term="%22Leonard-Louis+S%22">Leonard-Louis S</searchLink>; Neuropathology Unit, Department of Neuropathology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.; Centre de Reference des Maladies Neuromusculaires, Groupe Hospitalier Universitaire Pitié-Salpêtrière, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Maisonobe+T%22">Maisonobe T</searchLink>; Department of Clinical Neurophysiology, Pitié-Salpêtrière University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Stojkovic+T%22">Stojkovic T</searchLink>; Centre de Reference des Maladies Neuromusculaires, Groupe Hospitalier Universitaire Pitié-Salpêtrière, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Eymard+B%22">Eymard B</searchLink>; Centre de Reference des Maladies Neuromusculaires, Groupe Hospitalier Universitaire Pitié-Salpêtrière, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Romero+NB%22">Romero NB</searchLink>; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Padovani+A%22">Padovani A</searchLink>; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; Neurology Unit, Department of Continuity of Care and Frailty, ASST Spedali Civili Brescia Hospital, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Filosto+M%22">Filosto M</searchLink>; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Cassandrini+D%22">Cassandrini D</searchLink>; Immunology Unit, University Hospital, Azienda Ospedaliera Universitaria Integrata, Verona, Verona, Italy.<br /><searchLink fieldCode="AU" term="%22Biancalana+V%22">Biancalana V</searchLink>; Laboratoire de Diagnostic Génétique, Faculté de Médecine, CHRU, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Rendu+J%22">Rendu J</searchLink>; University Grenoble Alpes, INSERM U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Polavarapu+K%22">Polavarapu K</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Métay+C%22">Métay C</searchLink>; Sorbonne University, Myology research center, UMRS 974, Paris, France.; Molecular and cellular Cardiogenetics and Myogenetics Unit, DMU BioGeM, CGMC, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Evangelista+T%22">Evangelista T</searchLink>; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.; Neuropathology Unit, Department of Neuropathology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.; Sorbonne University, Myology research center, UMRS 974, Paris, France.
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