A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
(2014) Annals of Neurology — Vol. 76, n° 6, p. 891-898 (2014)
Files
Annalsofneurology-2014.pdf
Open Access - Adobe PDF
- 421.71 KB
Details
- Authors
- 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.
- Affiliations
Citations
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 (Original work published 2014)