Dystroglycanopathies: coming into focus
Author:
Publisher
Elsevier BV
Subject
Developmental Biology,Genetics
Reference48 articles.
1. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker–Warburg syndrome;Beltran-Valero de Bernabe;Am J Hum Genet,2002
2. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy;Kobayashi;Nature,1998
3. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1;Yoshida;Dev Cell,2001
4. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker–Warburg syndrome;van Reeuwijk;J Med Genet,2005
5. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan;Brockington;Am J Hum Genet,2001
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