A new muscle glycogen storage disease associated with glycogenin-1 deficiency

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

doi:10.1002/ana.24284

A new muscle glycogen storage disease associated with glycogenin-1 deficiency

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	891-898
Number of pages	8
Journal	Annals of Neurology
Volume	76
Issue number	6
DOIs	https://doi.org/10.1002/ana.24284
State	Published - Dec 1 2014
Externally published	Yes

ASJC Scopus subject areas

General Medicine

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Malfatti, E., Nilsson, J., Hedberg-Oldfors, C., Hernandez-Lain, A., Michel, F., Dominguez-Gonzalez, C., Viennet, G., Akman, H. O., Kornblum, C., Van den Bergh, P., Romero, N. B., Engel, A. G., DiMauro, S., & Oldfors, A. (2014). A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Annals of Neurology, 76(6), 891-898. https://doi.org/10.1002/ana.24284

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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.",

author = "Edoardo Malfatti and Johanna Nilsson and Carola Hedberg-Oldfors and Aurelio Hernandez-Lain and Fabrice Michel and Cristina Dominguez-Gonzalez and Gabriel Viennet and Akman, {H. Orhan} and Cornelia Kornblum and {Van den Bergh}, Peter and Romero, {Norma B.} and Engel, {Andrew G.} and Salvatore DiMauro and Anders Oldfors",

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AU - Malfatti, Edoardo

AU - Nilsson, Johanna

AU - Hedberg-Oldfors, Carola

AU - Hernandez-Lain, Aurelio

AU - Michel, Fabrice

AU - Dominguez-Gonzalez, Cristina

AU - Viennet, Gabriel

AU - Akman, H. Orhan

AU - Kornblum, Cornelia

AU - Van den Bergh, Peter

AU - Romero, Norma B.

AU - Engel, Andrew G.

AU - DiMauro, Salvatore

AU - Oldfors, Anders

PY - 2014/12/1

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N2 - 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.

AB - 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.

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A new muscle glycogen storage disease associated with glycogenin-1 deficiency

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