POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Background: Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy, structural brain defects, and eye malformations. Typical brain abnormalities are hydrocephalus, lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres, cer...

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Bibliographic Details
Main Authors: van Reeuwijk, J, Janssen, M, van den Elzen, C, d Beltran-Valero, Sabatelli, P, Merlini, L, Boon, M, Scheffer, H, Brockington, M, Muntoni, F, Huynen, M, Verrips, A, Walsh, C, Barth, P, Brunner, H, van Bokhoven, H
Format: Artigo
Language:Inglês
Published: BMJ Group 2005
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735967/
https://ncbi.nlm.nih.gov/pubmed/15894594
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.031963
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