B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker –Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss

In this report, we also provide a detailed review of previously reported cases with B3GALNT2-related dystroglycanopathy and compare them to our reported child. In addition, we study the genotype–phenotype correlation in these cases. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text

Source: Neuropediatrics - May 23, 2018 Category: Neurology Authors: Al Dhaibani, Muna A. El-Hattab, Ayman W. Ismayl, Omar Suleiman, Jehan Tags: Original Article Source Type: research