Article
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
Annals of neurology - 1 Jan 2009
Vaurs-Barrière Catherine, Deville Marlène, Sarret Catherine, Giraud Geneviève, Des Portes Vincent, Prats-Viñas José-Maria, De Michele Giuseppe, Dan Bernard, Brady Angela F, Boespflug-Tanguy Odile, Touraine Renaud
Abstract excerpt
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...
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