Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.

Carola Hedberg-OldforsA MenschK VisuttijaiG StoltenburgD StoevesandtT KrayaA OldforsS Zierz

Published in: Acta neurologica Scandinavica (2017)

We present functional evidence for the pathogenicity of a novel GYG1 missense mutation located in the substrate binding domain. Our results also demonstrate that glycogenin-1 deficiency may present with highly variable distribution of weakness and wasting also in the same family.

Keyphrases

intellectual disability
late onset
escherichia coli
biofilm formation
dna binding
transcription factor
structural basis
candida albicans
smoking cessation