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A new muscle glycogen storage disease associated with glycogenin‐1 deficiency
Author(s) -
Malfatti Edoardo,
Nilsson Johanna,
HedbergOldfors Carola,
HernandezLain Aurelio,
Michel Fabrice,
DominguezGonzalez Cristina,
Viennet Gabriel,
Akman H. Orhan,
Kornblum Cornelia,
Van den Bergh Peter,
Romero Norma B.,
Engel Andrew G.,
DiMauro Salvatore,
Oldfors Anders
Publication year - 2014
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.24284
Subject(s) - glycogen , glycogen debranching enzyme , glycogen synthase , glycogen storage disease , skeletal muscle , myopathy , biology , glycogen branching enzyme , endocrinology , medicine , gsk3b , biochemistry , chemistry , genetics , phosphorylation , gsk 3
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