An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene-Reference-Cited by-同舟云学术

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

Published:2005-04 Issue:4 Volume:15 Page:271-275
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Balci Burcu,Uyanik Gökhan,Dincer Pervin,Gross Claudia,Willer Tobias,Talim Beril,Haliloglu Göknur,Kale Gülsev,Hehr Ute,Winkler Jürgen,Topaloğlu Haluk

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference20 articles.

1. Defective glycosylation in muscular dystrophy;Muntoni;Lancet,2002

2. Glycosylation defects in muscular dystrophies;Haliloglu;Curr Opin Neurol,2004

3. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy;Hayashi;Neurology,2001

4. Deficiency of alpha-dystroglycan in muscle–eye–brain disease;Kano;Biochem Biophys Res Commun,2002

5. 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

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