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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Detalhes bibliográficos
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2005
Assuntos:
Original Article
Acesso em linha: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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