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Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.

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Title: Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.
Authors: Villar-Quiles RN; Neuromuscular reference center Nord/Est/Ile de France, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université-Inserm UMRS974, Paris, France., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Marlyand, USA., Metay C; Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université-Inserm UMRS974, Paris, France.; APHP, Centre de Génétique Moléculaire et Chromosomique, UF Cardiogénétique et Myogénétique moléculaire et cellulaire Hôpital La Pitié-Salpêtrière, Inserm UMRS ICAN Institute, Paris, France., Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Marlyand, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Marlyand, USA., Labella B; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Sorbonne Université, Paris, France., Natera-de Benito D; Neuromuscular Unit, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.; CIBERER, ISCIII, Madrid, Spain., Nascimento A; Neuromuscular Unit, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.; CIBERER, ISCIII, Madrid, Spain., Estevez-Arias B; Neuromuscular Unit, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain., Jimenez-Mallebrera C; Neuromuscular Unit, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.; CIBERER, ISCIII, Madrid, Spain., Ortez C; Neuromuscular Unit, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain., Domínguez-González C; Neuromuscular Unit, Imas12 Research Institute, CIBERER, '12 de Octubre' Hospital, Madrid, Spain., Horga A; Department of Neurology, Neuromuscular Diseases Unit, University Hospital San Carlos, Madrid, Spain., Marti Carrera MI; Biodonostia Health Research Institute, Neuromuscular Area, Neurology Department, Hospital Donostia, San Sebastian, Spain., Fernandez Torron R; Biodonostia Health Research Institute, Neuromuscular Area, Neurology Department, Hospital Donostia, San Sebastian, Spain., Kurbatov S; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University Named After N.N. Burdenko, Voronezh, Russian Federation., Chausova P; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia., Murtazina A; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia., Subbotin D; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia., Kuchina A; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia., Frezzati R; Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Carvalho A; Departamento de Neurociências, Laboratório de Doenças Neuromusculares da Faculdade de Medicina do ABC, Santo André, SP, Brazil., Waschbisch A; Department of Neurology, University Hospital RWTH Aachen, Aachen, Germany., Allamand V; Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université-Inserm UMRS974, Paris, France., Zou Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Marlyand, USA., Richard P; APHP, Centre de Génétique Moléculaire et Chromosomique, UF Cardiogénétique et Myogénétique moléculaire et cellulaire Hôpital La Pitié-Salpêtrière, Inserm UMRS ICAN Institute, Paris, France., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Marlyand, USA., Stojkovic T; Neuromuscular reference center Nord/Est/Ile de France, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université-Inserm UMRS974, Paris, France.
Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2026 Jul 28, pp. 22143602261453996. Date of Electronic Publication: 2026 Jul 28.
Publication Type: Journal Article
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
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  Data: Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.
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  Data: <searchLink fieldCode="AU" term="%22Villar-Quiles+RN%22">Villar-Quiles RN</searchLink>; Neuromuscular reference center Nord/Est/Ile de France, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université-Inserm UMRS974, Paris, France.<br /><searchLink fieldCode="AU" term="%22Foley+AR%22">Foley AR</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Marlyand, USA.<br /><searchLink fieldCode="AU" term="%22Metay+C%22">Metay C</searchLink>; Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université-Inserm UMRS974, Paris, France.; APHP, Centre de Génétique Moléculaire et Chromosomique, UF Cardiogénétique et Myogénétique moléculaire et cellulaire Hôpital La Pitié-Salpêtrière, Inserm UMRS ICAN Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Orbach+R%22">Orbach R</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Marlyand, USA.<br /><searchLink fieldCode="AU" term="%22Donkervoort+S%22">Donkervoort S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Marlyand, USA.<br /><searchLink fieldCode="AU" term="%22Labella+B%22">Labella B</searchLink>; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Natera-de+Benito+D%22">Natera-de Benito D</searchLink>; Neuromuscular Unit, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Nascimento+A%22">Nascimento A</searchLink>; Neuromuscular Unit, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Estevez-Arias+B%22">Estevez-Arias B</searchLink>; Neuromuscular Unit, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Jimenez-Mallebrera+C%22">Jimenez-Mallebrera C</searchLink>; Neuromuscular Unit, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ortez+C%22">Ortez C</searchLink>; Neuromuscular Unit, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Domínguez-González+C%22">Domínguez-González C</searchLink>; Neuromuscular Unit, Imas12 Research Institute, CIBERER, '12 de Octubre' Hospital, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Horga+A%22">Horga A</searchLink>; Department of Neurology, Neuromuscular Diseases Unit, University Hospital San Carlos, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Marti+Carrera+MI%22">Marti Carrera MI</searchLink>; Biodonostia Health Research Institute, Neuromuscular Area, Neurology Department, Hospital Donostia, San Sebastian, Spain.<br /><searchLink fieldCode="AU" term="%22Fernandez+Torron+R%22">Fernandez Torron R</searchLink>; Biodonostia Health Research Institute, Neuromuscular Area, Neurology Department, Hospital Donostia, San Sebastian, Spain.<br /><searchLink fieldCode="AU" term="%22Kurbatov+S%22">Kurbatov S</searchLink>; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University Named After N.N. Burdenko, Voronezh, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Chausova+P%22">Chausova P</searchLink>; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Murtazina+A%22">Murtazina A</searchLink>; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Subbotin+D%22">Subbotin D</searchLink>; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kuchina+A%22">Kuchina A</searchLink>; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Frezzati+R%22">Frezzati R</searchLink>; Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Carvalho+A%22">Carvalho A</searchLink>; Departamento de Neurociências, Laboratório de Doenças Neuromusculares da Faculdade de Medicina do ABC, Santo André, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Waschbisch+A%22">Waschbisch A</searchLink>; Department of Neurology, University Hospital RWTH Aachen, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Allamand+V%22">Allamand V</searchLink>; Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université-Inserm UMRS974, Paris, France.<br /><searchLink fieldCode="AU" term="%22Zou+Y%22">Zou Y</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Marlyand, USA.<br /><searchLink fieldCode="AU" term="%22Richard+P%22">Richard P</searchLink>; APHP, Centre de Génétique Moléculaire et Chromosomique, UF Cardiogénétique et Myogénétique moléculaire et cellulaire Hôpital La Pitié-Salpêtrière, Inserm UMRS ICAN Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bönnemann+CG%22">Bönnemann CG</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Marlyand, USA.<br /><searchLink fieldCode="AU" term="%22Stojkovic+T%22">Stojkovic T</searchLink>; Neuromuscular reference center Nord/Est/Ile de France, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université-Inserm UMRS974, Paris, France.
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