期刊
ANNALS OF NEUROLOGY
卷 76, 期 6, 页码 891-898出版社
WILEY-BLACKWELL
DOI: 10.1002/ana.24284
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资金
- Swedish Research Council [7122]
- NIH (NINDS) [NS6277]
- Keith B. Hayes Foundation
- Adult Polyglucosan Body Disease Research Foundation
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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