{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T17:28:07Z","timestamp":1790789287908,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,10,31]],"date-time":"2014-10-31T00:00:00Z","timestamp":1414713600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"crossref","award":["07122"],"award-info":[{"award-number":["07122"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:p>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\u20101 gene (<jats:italic>GYG1<\/jats:italic>). Most patients showed depletion of glycogenin\u20101 in skeletal muscle, whereas 1 showed presence of glycogenin\u20101 lacking the C\u2010terminal that normally binds glycogen synthase. Our results indicate that either depletion of glycogenin\u20101 or impaired interaction with glycogen synthase underlies this new form of glycogen storage disease that differs from a previously reported patient with <jats:italic>GYG1<\/jats:italic> mutations who showed profound glycogen depletion in skeletal muscle and accumulation of glycogenin\u20101. 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