Article
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Neurology - 24 Apr 2001
Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner H G, Voit T, Topaloglu H, Dobyns W B, Lehesjoki A E
Abstract excerpt
BACKGROUND: Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. Lack of consistent ocular abnormalities in FCMD has...
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