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Myotilin gene duplication causing late-onset myotilinopathy.

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Title: Myotilin gene duplication causing late-onset myotilinopathy.
Authors: Spinazzi M; Neuromuscular Reference Center, Department of Neurology, CHU d'ANGERS/ INSERM U1083, Angers, France.; Neurobiology and Neuropathology Unit, Department of Pathology, CHU d'Angers, Angers, France., Savarese M; Folkhalsan Research Center, Helsinki, Finland., Letournel F; Neurobiology and Neuropathology Unit, Department of Pathology, CHU d'Angers, Angers, France., Sagath L; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, Netherlands., Manero F; SCIAM, SFR ICAT, University of Angers, Angers, France., Guichet A; Service de Génétique CHU-CNRS 6015/INSERM U1083-Université d'Angers, Angers, France., Hoischen A; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine, Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, Netherlands., Metay C; APHP, GH Pitie-Salpetriere, Molecular and Cellular Cardiogenetics and Myogenetics UF, Chromosomic and Molecular Genetic Center and INSERM UMRS 974, Institute of Myology, Paris, France., Gouju J; Neurobiology and Neuropathology Unit, Department of Pathology, CHU d'Angers, Angers, France., Udd B; Folkhalsan Research Center, Helsinki, Finland.; Tampere Neuromuscular Reference Center, Tampere University Hospital, Tampere, Finland.
Source: European journal of neurology [Eur J Neurol] 2025 Jan; Vol. 32 (1), pp. e70029.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1468-1331
DOI:10.1111/ene.70029