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Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency |
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| Authors: | Masnada Silvia Groenweg Stefan Saletti Veronica Chiapparini Luisa Castellotti Barbara Salsano Ettore Visser W. Edward Tonduti Davide |
| Affiliation: | 1.Pediatric Neurology Unit, V. Buzzi Children’s Hospital, Via Castelvetro 32, 20154, Milan, Italy ;2.Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy ;3.Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus MC, University Medical Center, CN, Rotterdam, The Netherlands ;4.Child Neurology Department, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy ;5.Neuroradiology Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy ;6.Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy ;7.Unit of Neurodegenerative and Neurometabolic Rare Diseases, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy ; |
| Abstract: | Metabolic Brain Disease - Mutations in the thyroid hormone transporter MCT8 cause severe intellectual and motor disability and abnormal serum thyroid function tests, a syndrome known as MCT8... |
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