A New Muscle Glycogen Storage Disease Associated with Glycogenin-1 Deficiency

Overview

Journal Ann Neurol

Specialty Neurology

Date 2014 Oct 3

PMID 25272951

Citations 32

Authors

Edoardo Malfatti

Johanna Nilsson

Carola Hedberg-Oldfors

Aurelio Hernandez-Lain

Fabrice Michel

Cristina Dominguez-Gonzalez

Gabriel Viennet

H Orhan Akman

Cornelia Kornblum

Peter Van den Bergh

Norma B Romero

Andrew G Engel

Salvatore DiMauro

Anders Oldfors

Affiliations

Soon will be listed here.

Abstract

We describe a slowly progressive myopathy in 7 unrelated adult patients with storage of polyglucosan in muscle fibers. Genetic investigation revealed homozygous or compound heterozygous deleterious variants in the glycogenin-1 gene (GYG1). Most patients showed depletion of glycogenin-1 in skeletal muscle, whereas 1 showed presence of glycogenin-1 lacking the C-terminal that normally binds glycogen synthase. Our results indicate that either depletion of glycogenin-1 or impaired interaction with glycogen synthase underlies this new form of glycogen storage disease that differs from a previously reported patient with GYG1 mutations who showed profound glycogen depletion in skeletal muscle and accumulation of glycogenin-1.

Citing Articles

Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).

Mishra K, Kakhlon O Biomolecules. 2024; 14(9).

PMID: 39334863 PMC: 11430448. DOI: 10.3390/biom14091096.

Neurological glycogen storage diseases and emerging therapeutics.

Colpaert M, Singh P, Donohue K, Pires N, Fuller D, Corti M Neurotherapeutics. 2024; 21(5):e00446.

PMID: 39277505 PMC: 11581880. DOI: 10.1016/j.neurot.2024.e00446.

New mutations identified in a case of Glycogenin-1 deficiency.

Pruvost R, Csanyi M, Lefebvre G, Biancalana V, Malfatti E, Cassim F Mol Genet Metab Rep. 2024; 38:101046.

PMID: 38234863 PMC: 10792954. DOI: 10.1016/j.ymgmr.2023.101046.

Glycogen storage diseases.

Hannah W, Derks T, Drumm M, Grunert S, Kishnani P, Vissing J Nat Rev Dis Primers. 2023; 9(1):46.

PMID: 37679331 DOI: 10.1038/s41572-023-00456-z.

Gene therapy for glycogen storage diseases.

Koeberl D, Koch R, Lim J, Brooks E, Arnson B, Sun B J Inherit Metab Dis. 2023; 47(1):93-118.

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