Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy
Graphical Abstract Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Springer Nature
2023-07-01
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| Series: | EMBO Molecular Medicine |
| Online Access: | https://doi.org/10.15252/emmm.202216090 |
| _version_ | 1826990689025523712 |
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| author | Sylvie Gerber Lola Lessard Cécile Rouzier Samira Ait‐el‐Mkadem Saadi Roxana Ameli Stéphane Thobois Lucie Abouaf Françoise Bouhour Josseline Kaplan Audrey Putoux Antoine Pegat Jean‐Michel Rozet |
| author_facet | Sylvie Gerber Lola Lessard Cécile Rouzier Samira Ait‐el‐Mkadem Saadi Roxana Ameli Stéphane Thobois Lucie Abouaf Françoise Bouhour Josseline Kaplan Audrey Putoux Antoine Pegat Jean‐Michel Rozet |
| author_sort | Sylvie Gerber |
| collection | DOAJ |
| description | Graphical Abstract Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017). |
| first_indexed | 2024-03-07T16:40:58Z |
| format | Article |
| id | doaj.art-0a7e7570d3ec48889ab6d74d61b6f5a7 |
| institution | Directory Open Access Journal |
| issn | 1757-4676 1757-4684 |
| language | English |
| last_indexed | 2025-02-18T08:24:17Z |
| publishDate | 2023-07-01 |
| publisher | Springer Nature |
| record_format | Article |
| series | EMBO Molecular Medicine |
| spelling | doaj.art-0a7e7570d3ec48889ab6d74d61b6f5a72024-11-03T12:38:29ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842023-07-011581610.15252/emmm.202216090Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophySylvie Gerber0Lola Lessard1Cécile Rouzier2Samira Ait‐el‐Mkadem Saadi3Roxana Ameli4Stéphane Thobois5Lucie Abouaf6Françoise Bouhour7Josseline Kaplan8Audrey Putoux9Antoine Pegat10Jean‐Michel Rozet11IHU Imagine – Institut des Maladies Génétiques, Laboratoire de Génétique Ophtalmologique (LGO), Université Paris DescartesService d'Electroneuromyographie et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de LyonService de Génétique, Hôpital l'Archet 2, CHU de NiceService de Génétique, Hôpital l'Archet 2, CHU de NiceService de Neuroradiologie, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de LyonService de Neurologie C – Troubles du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de LyonCabinet d'Ophtalmologie des TullistesService d'Electroneuromyographie et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de LyonIHU Imagine – Institut des Maladies Génétiques, Laboratoire de Génétique Ophtalmologique (LGO), Université Paris DescartesUnité de Génétique Clinique, Service de Génétique, Centre Labellisé Anomalies du Développement, Hospices Civils de LyonService d'Electroneuromyographie et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de LyonIHU Imagine – Institut des Maladies Génétiques, Laboratoire de Génétique Ophtalmologique (LGO), Université Paris DescartesGraphical Abstract Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).https://doi.org/10.15252/emmm.202216090 |
| spellingShingle | Sylvie Gerber Lola Lessard Cécile Rouzier Samira Ait‐el‐Mkadem Saadi Roxana Ameli Stéphane Thobois Lucie Abouaf Françoise Bouhour Josseline Kaplan Audrey Putoux Antoine Pegat Jean‐Michel Rozet Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy EMBO Molecular Medicine |
| title | Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy |
| title_full | Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy |
| title_fullStr | Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy |
| title_full_unstemmed | Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy |
| title_short | Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy |
| title_sort | autosomal recessive pathogenic msto1 variants in hereditary optic atrophy |
| url | https://doi.org/10.15252/emmm.202216090 |
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