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Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
Moslemi, Ali-Reza; Lindberg, Christopher; Nilsson, Johanna; Tajsharghi, Homa; Andersson, Bert; Oldfors, Anders.
Afiliação
  • Moslemi AR; Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
N Engl J Med ; 362(13): 1203-10, 2010 Apr 01.
Article em En | MEDLINE | ID: mdl-20357282
Glycogen, which serves as a major energy reserve in cells, is a large, branched polymer of glucose molecules. We describe a patient who had muscle weakness, associated with the depletion of glycogen in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle showed a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. Western blotting showed the presence of unglucosylated glycogenin-1 in the muscle and heart. Sequencing of the glycogenin-1 gene, GYG1, revealed a nonsense mutation in one allele and a missense mutation, Thr83Met, in the other. The missense mutation resulted in inactivation of the autoglucosylation of glycogenin-1 that is necessary for the priming of glycogen synthesis in muscle.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas / Mutação de Sentido Incorreto / Glucosiltransferases / Glicogênio Tipo de estudo: Etiology_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2010 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas / Mutação de Sentido Incorreto / Glucosiltransferases / Glicogênio Tipo de estudo: Etiology_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2010 Tipo de documento: Article