Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects
| Autor: | Vaurs Barrière C, Deville M, Sarret C, Giraud G, Des Portes V, Prats Viñas JM, Dan B, Brady AF, Boespflug Tanguy O, Touraine R., DE MICHELE, GIUSEPPE |
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| Přispěvatelé: | Vaurs Barrière, C, Deville, M, Sarret, C, Giraud, G, Des Portes, V, Prats Viñas, Jm, DE MICHELE, Giuseppe, Dan, B, Brady, Af, Boespflug Tanguy, O, Touraine, R. |
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Popis: | Pelizaeus-Merzbacher Disease is an X-linked hypomyelinatiing leukodystrophy. We report mutations in the thyroid hormone transporter gene MCT8 in 11% of 53 families affected by hypomyelinating leukodystrophies of unknown aetiology. The 12 MCT8 mutated patients express initially a Pelizaeus-Merzbacher-Like disease phenotype with a latter unusual improvement of magnetic resonance imaging white matter signal despite absence of clinical progression. This observation underlines the interest of determining both free T3 and free T4 serum concentrations to screen for MCT8 mutations in young patients ( |
| Databáze: | OpenAIRE |
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