A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Ann Neurol
; 76(6): 891-8, 2014 Dec.
Article
em En
| MEDLINE
| ID: mdl-25272951
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.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Glicoproteínas
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Doença de Depósito de Glicogênio
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Músculo Esquelético
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Glucosiltransferases
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
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Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
França