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Article

Proteomic profiling of polyglucosan bodies associated with glycogenin‐1 deficiency in skeletal muscle

1 Jun 2024

Abstract excerpt

AIMS: Polyglucosan storage disorders represent an emerging field within neurodegenerative and neuromuscular conditions, including Lafora disease (EPM2A, EPM2B), adult polyglucosan body disease (APBD, GBE1), polyglucosan body myopathies associated with RBCK1 deficiency (PGBM1, RBCK1) or glycogenin-1 deficiency (PGBM2, GYG1). While the storage material primarily comprises glycans, this study aimed to gain deeper...

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PMID: 38923610
DOI: 10.1111/nan.12995

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