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

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Malfatti, Edoardo Nilsson, Johanna Hedberg-Oldfors, Carola Hernandez-Lain, Aurelio Michel, Fabrice Van den Bergh, Peter [UCL] Oldfors, Anders

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.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès libre
Publication date 2014
Language Anglais
Journal information "Annals of Neurology" - Vol. 76, no. 6, p. 891-898 (2014)
Peer reviewed yes
Publisher JohnWiley & Sons, Inc. ((United States) New York, NY)
issn 0364-5134
e-issn 1531-8249
Publication status Publié
Affiliations UCL - SSS/IONS/NEUR - Clinical Neuroscience
UCL - (SLuc) Service de neurologie
MESH Subject Adult ; Middle Aged ; Muscle, Skeletal ; Aged ; Female ; Glucosyltransferases ; Glycogen Storage Disease ; Glycogen Synthase ; Glycoproteins ; Humans ; Male
Links
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Bibliographic reference Malfatti, Edoardo ; Nilsson, Johanna ; Hedberg-Oldfors, Carola ; Hernandez-Lain, Aurelio ; Michel, Fabrice ; et. al. A new muscle glycogen storage disease associated with glycogenin-1 deficiency.. In: Annals of Neurology, Vol. 76, no. 6, p. 891-898 (2014)
Permanent URL http://hdl.handle.net/2078.1/156124