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Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

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Title: Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Authors: Angelini C; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.; Centre de Référence Maladies Rares «Neurogénétique», Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; University of Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France., Durand CM; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.; Centre de Référence Maladies Rares «Neurogénétique», Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; University of Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France.; MRGM, University of Bordeaux, INSERM U1211, Bordeaux, France., Fergelot P; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.; MRGM, University of Bordeaux, INSERM U1211, Bordeaux, France., Deforges J; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France., Vital A; Service d'Anatomie Pathologique, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France., Menegon P; Service de Neuroradiologie, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France., Sarrazin E; Centre de Référence Maladies Rares Neuromusculaires (AOC), Hôpital Pierre Zobda Quitman, CHU Martinique, Fort de France, Martinique., Bellance R; Centre de Référence Maladies Rares Neuromusculaires (AOC), Hôpital Pierre Zobda Quitman, CHU Martinique, Fort de France, Martinique., Mathis S; Service de Neurologie (Unité Nerf-Muscle), Centre de Référence Maladies Rares, Neuromusculaires (AOC), Centre SLA, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France., Gonzalez V; Service de neurologie, Hôpital Gui de Chauliac, CHU Montpellier, Montpellier, France., Renaud M; Service de Neurologie, CHRU Nancy, Nancy, France.; Service de Génétique Clinique, CHRU Nancy, Nancy, France.; NGERE, INSERM U1256, Faculté de Médecine, Université de Lorraine, Nancy, France., Frismand S; Service de Neurologie, CHRU Nancy, Nancy, France., Schmitt E; Service de Neuroradiologie Diagnostique et Thérapeutique, CHRU Nancy, Nancy, France., Rouanet M; Service d'explorations Fonctionnelles du Système Nerveux, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France., Burglen L; Laboratoire de Neurogénétique Pédiatrique, Département de Génétique, Hôpital Trousseau, APHP.Sorbonne Université, Paris, France., Chabrol B; Service de Neuropédiatrie, Hôpital Timone enfants, APHM, Marseille, France., Desnous B; Service de Neuropédiatrie, Hôpital Timone enfants, APHM, Marseille, France., Arveiler B; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.; MRGM, University of Bordeaux, INSERM U1211, Bordeaux, France., Stevanin G; University of Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France.; EPHE, CNRS, INCIA, UMR 5287, PSL Research University, Paris, France., Coupry I; University of Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France.; MRGM, University of Bordeaux, INSERM U1211, Bordeaux, France., Goizet C; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.; Centre de Référence Maladies Rares «Neurogénétique», Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; University of Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France.; MRGM, University of Bordeaux, INSERM U1211, Bordeaux, France.
Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Nov; Vol. 38 (11), pp. 2103-2115. Date of Electronic Publication: 2023 Aug 21.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
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  Data: <searchLink fieldCode="AU" term="%22Angelini+C%22">Angelini C</searchLink>; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.; Centre de Référence Maladies Rares «Neurogénétique», Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; University of Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Durand+CM%22">Durand CM</searchLink>; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.; Centre de Référence Maladies Rares «Neurogénétique», Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; University of Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France.; MRGM, University of Bordeaux, INSERM U1211, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Fergelot+P%22">Fergelot P</searchLink>; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.; MRGM, University of Bordeaux, INSERM U1211, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Deforges+J%22">Deforges J</searchLink>; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Vital+A%22">Vital A</searchLink>; Service d'Anatomie Pathologique, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Menegon+P%22">Menegon P</searchLink>; Service de Neuroradiologie, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Sarrazin+E%22">Sarrazin E</searchLink>; Centre de Référence Maladies Rares Neuromusculaires (AOC), Hôpital Pierre Zobda Quitman, CHU Martinique, Fort de France, Martinique.<br /><searchLink fieldCode="AU" term="%22Bellance+R%22">Bellance R</searchLink>; Centre de Référence Maladies Rares Neuromusculaires (AOC), Hôpital Pierre Zobda Quitman, CHU Martinique, Fort de France, Martinique.<br /><searchLink fieldCode="AU" term="%22Mathis+S%22">Mathis S</searchLink>; Service de Neurologie (Unité Nerf-Muscle), Centre de Référence Maladies Rares, Neuromusculaires (AOC), Centre SLA, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Gonzalez+V%22">Gonzalez V</searchLink>; Service de neurologie, Hôpital Gui de Chauliac, CHU Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Renaud+M%22">Renaud M</searchLink>; Service de Neurologie, CHRU Nancy, Nancy, France.; Service de Génétique Clinique, CHRU Nancy, Nancy, France.; NGERE, INSERM U1256, Faculté de Médecine, Université de Lorraine, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Frismand+S%22">Frismand S</searchLink>; Service de Neurologie, CHRU Nancy, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Schmitt+E%22">Schmitt E</searchLink>; Service de Neuroradiologie Diagnostique et Thérapeutique, CHRU Nancy, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Rouanet+M%22">Rouanet M</searchLink>; Service d'explorations Fonctionnelles du Système Nerveux, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Burglen+L%22">Burglen L</searchLink>; Laboratoire de Neurogénétique Pédiatrique, Département de Génétique, Hôpital Trousseau, APHP.Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Chabrol+B%22">Chabrol B</searchLink>; Service de Neuropédiatrie, Hôpital Timone enfants, APHM, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Desnous+B%22">Desnous B</searchLink>; Service de Neuropédiatrie, Hôpital Timone enfants, APHM, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Arveiler+B%22">Arveiler B</searchLink>; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.; MRGM, University of Bordeaux, INSERM U1211, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Stevanin+G%22">Stevanin G</searchLink>; University of Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France.; EPHE, CNRS, INCIA, UMR 5287, PSL Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Coupry+I%22">Coupry I</searchLink>; University of Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France.; MRGM, University of Bordeaux, INSERM U1211, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Goizet+C%22">Goizet C</searchLink>; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.; Centre de Référence Maladies Rares «Neurogénétique», Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; University of Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France.; MRGM, University of Bordeaux, INSERM U1211, Bordeaux, France.
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  Data: <searchLink fieldCode="JN" term="%228610688%22">Movement disorders : official journal of the Movement Disorder Society</searchLink> [Mov Disord] 2023 Nov; Vol. 38 (11), pp. 2103-2115. <i>Date of Electronic Publication: </i>2023 Aug 21.
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