Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
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| Title: | Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases. |
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| Authors: | Zereg E; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France., Chaussenot A; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France., Morel G; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France., Bannwarth S; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France., Sacconi S; Department of Clinical Neurosciences, Neuromuscular Diseases Centre, Nice Teaching Hospital, Nice, France., Soriani MH; Department of Clinical Neurosciences, Neuromuscular Diseases Centre, Nice Teaching Hospital, Nice, France., Attarian S; Neurology Department, Referral Center for ALS and Neuromuscular Diseases, Timone University Hospital, Aix-Marseille University, Marseille, France., Cano A; Pediatric Neurology Department, Reference Center for Inherited Metabolic Diseases, Timone Hospital, Marseille, France., Pouget J; Neurology Department, Referral Center for ALS and Neuromuscular Diseases, Timone University Hospital, Aix-Marseille University, Marseille, France., Bellance R; Neuromyology Department, Neuromuscular Reference Center, Fort-de-France Teaching Hospital, Fort-de-France, France., Tranchant C; Department of Movement Pathology, Strasbourg Teaching Hospital, Strasbourg, France., Lannes B; Pathology Department, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France., de Paula AM; Pathology Department, Timone University Hospital, Aix-Marseille University, Marseille, France., Saadi Ait-El-Mkadem S; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France., Chafino B; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France., Berthet M; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France., Fragaki K; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France., Paquis-Flucklinger V; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France., Rouzier C; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France. |
| Source: | Human mutation [Hum Mutat] 2020 Aug; Vol. 41 (8), pp. 1394-1406. Date of Electronic Publication: 2020 Jun 12. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.24037 |
