engleski

Cortical neuronal morphology and MR spectroscopy in Walker-Warburg syndrome caused by novel POMT1 mutation

Walker-Warburg syndrome is an autosomal recessive disease, belonging to the group of congenital muscular dystrophies. Clinically, main characteristics are congenital brain and occular abnormalities and muscular dystrophy. The syndrome is genetically heterogenous, with mutations found so far in five different genes. We report new nauropathological and neuroradiological changes in an infant with WWS and novel genotype.

Walker-Warburg syndrome; muscular dystrophy; brain abnormalities; ocular abnormalities

DOI:10.1007/s10545-006-9995-6