ArticleActa neuropathologica communications2021
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
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Article in Acta neuropathologica communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9citing papers in PubMed
0.7field-weighted citation impact, top 31% of its field
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The trial behind it
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Who cites it
9 citing papers in PubMed, 9 citations in OpenAlex.
- From bedside to bench: A multimodal approach uncovering the molecular basis of theProceedings of the National Academy of Sciences of the United States of America · 2026Article
- The Clinical, Histological, and Genetic Spectrum ofJournal of clinical medicine · 2026Article
- Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy-a case of severe neonatal presentation due to aFrontiers in pediatrics · 2026Article
- Case Report: Genomic and clinical insights into MYBPC3-related hypertrophic cardiomyopathy in Ecuadorian patients: implications for sudden cardiac death risk.Frontiers in cardiovascular medicine · 2025Article
- Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.Acta neuropathologica communications · 2024Article
- Congenital Titinopathies Linked to Mutations inInternational journal of molecular sciences · 2024Article
- Bioengineered Model of Human LGMD2B Skeletal Muscle Reveals Roles of Intracellular Calcium Overload in Contractile and Metabolic Dysfunction in Dysferlinopathy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.Genome medicine · 2024Article
- RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.Journal of neuromuscular diseases · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors at 16 institutions in 1 country.
Valérie BiancalanaInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U 1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France. valerie.biancalana@chru-strasbourg.fr.
John RenduLaboratoire de Biochimie et Génétique Moléculaire, Pôle de Biologie, CHU Grenoble Alpes, Grenoble, France. JRendu@chu-grenoble.fr.
Annabelle ChaussenotService de Génétique Médicale, Centre de Référence des Maladies Mitochondriales, Hôpital de l'Archet 2, Nice, France.
Helen MeciliNeurologie Pédiatrique, Centre de Référence des Pathologies Neuromusculaires Nord-Est-Ile de France, Hôpital d'Enfants, CHRU Vandoeuvre-lès-Nancy, France.
Eric BiethService de Génétique Médicale, Hôpital Purpan, CHU Toulouse, Toulouse, France.
Mélanie FradinService de Génétique Clinique, CHU Rennes, CLAD Ouest, CCNM, Rennes, France.
Sandra MercierService de Génétique Médicale, CHU Nantes, Nantes, France.
Maud MichaudService de Neurologie, Centre de Référence des Pathologies Neuromusculaires Nord-Est-Ile de France, CHU Central Nancy, Nancy, France.
Marie-Christine NouguesPediatric Neurology Department, Centre de Référence des Pathologies Neuromusculaires Nord-Est-Ile de France, Armand Trousseau Hospital, APHP, Paris, France.
Laurent PasquierService de Génétique Clinique, CHU Rennes, Rennes, France.
Sabrina SacconiPeripheral Nervous System and Muscle Department, CHU Nice, Université Côte d'Azur, Nice, France.
Norma B RomeroNeuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, Paris, France.
Pascale MarcorellesDepartment of Pathology, Brest University Hospital, Brest, France.
François Jérôme AuthierService d'histologie, Centre de Référence des Pathologies Neuromusculaires Nord-Est-Ile de France, Hôpital Mondor, UnivParis Est Créteil, Créteil, France.
Antoinette Gelot BernabePathology Department, Armand Trousseau Hospital, AP-HP, Paris, France.
Emmanuelle Uro-CosteDepartment of Pathology, Toulouse University Hospital, Toulouse, France.
Claude CancesAOC (Atlantique-Occitanie-Caraïbe) Reference Centre for Neuromuscular Disorders, CHU, Toulouse, France.
Bertrand IsidorService de Génétique Médicale, CHU Nantes, Nantes, France.
Armelle MagotCentre de Référence des Maladies Neuromusculaires Rares AOC, Filnemus, ERN Euro-NMD, Nantes, France.
Marie-Christine Minot-MyhieService de Génétique Clinique, CHU Rennes, CLAD Ouest, CCNM, Rennes, France.
Yann PéréonCentre de Référence des Maladies Neuromusculaires Rares AOC, Filnemus, ERN Euro-NMD, Nantes, France.
Julie Perrier-BoeswillwaldCentre de Référence des Maladies Neuromusculaires Rares AOC, Filnemus, ERN Euro-NMD, Nantes, France.
Gilles BretaudeauPaediatrics department, Centre d'Action Médico-Sociale Précoce, CHU Pontchaillou, Rennes, France.
Nicolas DondaineLaboratoire de Diagnostic Génétique, Faculté de Médecine, CHRU, Strasbourg, France.
Alison BouzenardInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U 1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.
Mégane PizzimentiInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U 1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.
Bruno EymardAPHP, Centre de Référence des Pathologies Neuromusculaires Nord-Est-Ile de France, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France.
Ana FerreiroAPHP, Centre de Référence des Pathologies Neuromusculaires Nord-Est-Ile de France, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France.
Jocelyn LaporteInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U 1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.
Julien FauréLaboratoire de Biochimie et Génétique Moléculaire, Pôle de Biologie, CHU Grenoble Alpes, Grenoble, France.
Johann BöhmInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U 1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.ORCID 0000-0001-7370-3469
Centre National de la Recherche Scientifique · FREuropean Organisation for Rare Diseases · FRInserm · FRSorbonne Université · FRCentre Hospitalier Régional et Universitaire de Nancy · FRHôpital Pontchaillou · FRCentre Hospitalier Universitaire de Rennes · FRCentre Hospitalier Universitaire de Toulouse · FRHôpital l'Archet · FRHôpital Nord · FRHôpital Purpan · FRHôpitaux Universitaires de Strasbourg · FRUniversité Côte d'Azur · FRUniversité de Bretagne Occidentale · FRUniversité Fédérale de Toulouse Midi-Pyrénées · FRUniversité Paris-Est Créteil · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca
Indexed as
Disease ProgressionAdolescentAdultAgedAge of OnsetChild, PreschoolFemaleHumansMaleMiddle AgedMuscle HypotoniaPedigreeRyanodine Receptor Calcium Release ChannelYoung AdultRyanodine Receptor Calcium Release ChannelRYR1 protein, humanCalciumCongenital myopathyExcitation–contraction couplingMuscle weaknessNeuromuscular disorderTriad
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