4.5 Article

Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency

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Summary: Adult polyglucosan body disease (APBD) is a complex autosomal recessive inherited neurometabolic disorder caused by pathogenic variants in the GBE1 gene, leading to deficiency of glycogen-branching enzyme and formation of polyglucosan bodies in various organs and tissues. The clinical presentations of APBD are diverse and can involve the neuromuscular system.

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