Associated Papers
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
Visuttijai K et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Update on polyglucosan storage diseases.
Cenacchi G et al.
Virchows Archiv : an International Journal of Pathology, 2019
Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.
Hedberg-Oldfors C et al.
Acta Neurologica Scandinavica, 2018
Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.
Tasca G et al.
Journal of Neurology, 2016
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