Molecular Genetic Analysis of the <it>PLP1 </it>Gene in 38 Families with <it>PLP1</it>-related disorders: Identification and Functional Characterization of 11 Novel <it>PLP1 </it>Mutations

Molecular Genetic Analysis of the <it>PLP1 </it>Gene in 38 Families with <it>PLP1</it>-related disorders: Identification and Functional Characterization of 11 Novel <it>PLP1 </it>Mutations

<p>Abstract</p> <p>Background</p> <p>The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked <it>PLP1 </it>gene encoding myelin proteolipid prote...

Full description

Bibliographic Details
Main Authors: Marchiani Valentina, Demir Ercan, Corsolini Fabio, Simonati Alessandro, Boespflug-Tanguy Odile, Uziel Graziella, Bertini Enrico, Lualdi Susanna, Mort Matthew, Biancheri Roberta, Regis Stefano, Grossi Serena, Percesepe Antonio, Stanzial Franco, Rossi Andrea, Vaurs-Barrière Catherine, Cooper David N, Filocamo Mirella
Format: Article
Language:English
Published: BMC 2011-06-01
Series:Orphanet Journal of Rare Diseases
Online Access:http://www.ojrd.com/content/6/1/40

Internet

http://www.ojrd.com/content/6/1/40

Similar Items