Article
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
Human mutation - 1 Dec 2015
Jensen Braden S, Willer Tobias, Saade Dimah N, Cox Mary O, Mozaffar Tahseen, Scavina Mena, Stefans Vikki A, Winder Thomas L, Campbell Kevin P, Moore Steven A, Mathews Katherine D
Abstract excerpt
Mutations in GDP-mannose pyrophosphorylase B (GMPPB), a catalyst for the formation of the sugar donor GDP-mannose, were recently identified as a cause of muscular dystrophy resulting from abnormal glycosylation of α-dystroglycan. In this series, we report nine unrelated individuals with GMPPB-associated dystroglycanopathy. The most mildly affected subject has normal strength at 25 years, whereas three severely...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.