Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

Abstract excerpt

OBJECTIVE: gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss genotype-phenotype relations. METHODS: We describe 9 patients from 5 families in whom muscle biopsies showed vacuoles with an abnormal accumulation of glycogen in muscle fibers, partially α-amylase resistant suggesting polyglucosan bodies. The patients had either progressive early-onset limb-girdle weakness...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Glycogen Storage Diseases and Myoclonus
• Share to Parkinson's Disease and Spinal Disorders
• Share to Wnt/β-catenin signaling in development and cancer