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Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy |
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| Authors: | Sainio Markus T. Välipakka Salla Rinaldi Bruno Lapatto Helena Paetau Anders Ojanen Simo Brilhante Virginia Jokela Manu Huovinen Sanna Auranen Mari Palmio Johanna Friant Sylvie Ylikallio Emil Udd Bjarne Tyynismaa Henna |
| Affiliation: | 1.Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland ;2.Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland ;3.Department of Molecular and Cellular Genetics, CNRS, GMGM-UMR7156, Université de Strasbourg, Strasbourg, France ;4.Department of Pathology, HUSLAB and University of Helsinki, Helsinki, Finland ;5.Division of Clinical Neurosciences, Turku University Hospital, University of Turku, Turku, Finland ;6.Department of Neurology, Neuromuscular Research Center, University Hospital and University of Tampere, Tampere, Finland ;7.Department of Pathology, Fimlab Laboratories, Tampere University Hospital, Tampere, Finland ;8.Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland ;9.Neurology Department, Vasa Central Hospital, Vaasa, Finland ;10.Department of Clinical and Medical Genetics, University of Helsinki, Helsinki, Finland ; |
| Abstract: | Journal of Neurology - To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital... |
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