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Article

Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation.

Neuromuscular disorders : NMD - 1 Oct 2015

Luo Sushan, Zhu Wenhua, Yue Dongyue, Lin Jie, Wang Yin, Zhu Zhen, Qiu Wenjuan, Lu Jiahong, Hedberg-Oldfors Carola, Oldfors Anders, Zhao Chongbo

Abstract excerpt

We report a 46-year-old female with late-onset skeletal myopathy affecting proximal limb muscles. Muscle biopsy revealed a polyglucosan myopathy with PAS-positive inclusions predominantly in glycogen-depleted fibers, which were demonstrated as type I fibers by ATPase staining. Whole-body magnetic imaging disclosed that the paravertebral, scapular, and pelvic girdle muscles, the anterior compartment of the arms,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26255073
DOI: 10.1016/j.nmd.2015.07.007

Genes

GYG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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