| 1 | MCT8, MCT8D |
| Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. | |
| Visser WE, Jansen J, Friesema EC, Kester MH, Mancilla E, Lundgren J, van der Knaap MS, Lunsing RJ, Brouwer OF, Visser TJ. | |
| Hum Mutat 30(1):29-38. 2009 | |
| 2 | MCT8D, SLC16A2 |
| X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. | |
| Brockmann K, Dumitrescu AM, Best TT, Hanefeld F, Refetoff S. | |
| J Neurol 252(6):663-6. Epub 2005 Apr 18. 2005 | |
| 3 | SLC16A2, MCT8D |
| A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. | |
| Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. | |
| Am J Hum Genet 74(1):168-75. Epub 2003 Dec 05. 2004 | |