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Updated: Mar 22, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
GYG1 gene mutations in a family with polyglucosan body myopathy
Marina Fanin1, Annalaura Torella1, Marco Savarese1
1Department of Neurosciences (M.F.), University of Padova; Department of Biochemistry, Biophysics and General Pathology (A.T., M.S., V.N.), Second University of Naples; Telethon Institute of Genetics and Medicine (A.T., M.S., V.N.), Naples; and Fondazione San Camillo Hospital IRCCS (C.A.), Venice, Italy.
Abstract:
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 abnormal polysaccharide with few branched points and excessively long peripheral chains. PG is accumulated in PG bodies that can be easily identified in muscle by their typical features using histopathologic (strong periodic acid-Schiff [PAS] reaction, resistance to diastase digestion) and ultrastructural analyses.
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