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

Journal article
Authors Edoardo Malfatti
Johanna Nilsson
Carola Hedberg
A. Hernandez-Lain
F. Michel
C. Dominguez-Gonzalez
G. Viennet
H. O. Akman
C. Kornblum
P. Van den Bergh
N. B. Romero
A. G. Engel
S. DiMauro
Anders Oldfors
Published in Annals of Neurology
Volume 76
Issue 6
Pages 891-898
ISSN 0364-5134
Publication year 2014
Published at Institute of Biomedicine, Department of Pathology
Pages 891-898
Language en
Links dx.doi.org/10.1002/ana.24284
Keywords BODY MYOPATHY, MUTATION, RBCK1, Clinical Neurology, Neurosciences
Subject categories Neuroscience, Pathology

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. Ann Neurol 2014;76:891-898

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