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

ABSTRACT:

Objective

To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 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 or late-onset distal or scapuloperoneal muscle affection as shown by muscle imaging. No clear definite cardiac disease was found. Histologic and protein analysis investigations were performed on muscle.

Results

Genetic analyses by direct or exome sequencing of the

SUBMITTER: Ben Yaou R 

PROVIDER: S-EPMC5735306 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature