Article
B4GAT1 Gene Associated Congenital Muscular Dystrophy Presenting with Recurrent Severe Ventriculomegaly: Case Report and Review of Literature.
Fetal and pediatric pathology - 1 Oct 2022
Lallar Meenakshi, Kaur Ladbans, Preet Meetan, Singh U P
Abstract excerpt
BACKGROUND: Congenital muscular dystrophies (CMD) range in phenotype from an antenatal presentation with brain and eye anomalies to isolated muscular weakness. B4GAT1 gene has recently been associated with muscular dystrophy-dystroglycanopathy, type A, 13 and two families have been reported. CASE REPORT: We report the third family with B4GAT1 associated CMD presenting as recurrent severe ventriculomegaly,...
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