Ontology highlight
ABSTRACT:
SUBMITTER: Chang W
PROVIDER: S-EPMC2735827 | biostudies-literature | 2009 Jun
REPOSITORIES: biostudies-literature
Prenatal diagnosis 20090601 6
<h4>Objective</h4>Walker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan (alpha-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital muscular dystrophy in Japan. We describe the clinical features of four nonconsanguinous Ashkenazi Jewish families with WWS and identify th ...[more]