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Article

<i>GYG1</i> gene mutations in a family with polyglucosan body myopathy

1 Oct 2015

Abstract excerpt

Defects in enzymes involved in glycogen metabolism result in glycogen storage diseases (GSDs), which may affect the skeletal and sometimes also the cardiac muscle. The most frequent abnormality causing GSDs is glycogen storage, whereas other and uncommon forms of GSD are due to a perturbation of the branching structure of glycogen. These latter GSDs are characterized by an accumulation of polyglucosan (PG),(1) an...

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PMID: 27066558
DOI: 10.1212/nxg.0000000000000021

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