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Article

Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.

Neuromuscular disorders : NMD - 1 Jan 2016

Akman H Orhan, Aykit Yavuz, Amuk Ozge Ceren, Malfatti Edoardo, Romero Norma B, Maioli Maria Antonietta, Piras Rachele, DiMauro Salvatore, Marrosu Gianni

Abstract excerpt

Five Sardinian patients presented in their 5th or 6th decade with progressive limb girdle muscle weakness but their muscle biopsies showed vacuolar myopathy. The more or less abundant subsarcolemmal and intermyofibrillar vacuoles showed intense, partially α-amylase resistant, PAS-positive deposits consistent with polyglucosan. The recent description of late-onset polyglucosan myopathy has prompted us to find new...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26652229
DOI: 10.1016/j.nmd.2015.10.012
PMCID: PMC4724519

Genes

GYG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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