Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher–like disease (PMLD) are characterized by nystagmus, progressive spasticity, and ataxia. In a consanguineous family with PMLD, we performed a genomewide linkage scan using the GeneChip Mapping EA...

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Bibliografiske detaljer
Main Authors:	Uhlenberg, Birgit, Schuelke, Markus, Rüschendorf, Franz, Ruf, Nico, Kaindl, Angela M., Henneke, Marco, Thiele, Holger, Stoltenburg-Didinger, Gisela, Aksu, Fuat, Topaloğlu, Haluk, Nürnberg, Peter, Hübner, Christoph, Weschke, Bernhard, Gärtner, Jutta
Format:	Artigo
Sprog:	Inglês
Udgivet:	The American Society of Human Genetics 2004
Fag:	Articles
Online adgang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC1216059/ https://ncbi.nlm.nih.gov/pubmed/15192806
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Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

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