Glycogenin-1 Deficiency: A Case Report and Literature Review

A 79-year-old Italian woman with a novel case of GYG1-related polyglucosan bodies myopathy. The report provides clinical, histological, and molecular characterization, including electromyography and muscle biopsy findings. Nicola Molitierno authored this CC-BY-4.0 licensed document, last updated on 2026-05-28.

Use Cases

• Reviewing clinical presentation of GYG1 deficiency based on the described case of subacute muscle soreness, weakness, and atrophy.
• Studying histological clues for diagnosis based on described PAS-positive, diastase-resistant vacuoles in muscle fibers.
• Analyzing genetic variants associated with polyglucosan bodies myopathy based on the reported heterozygous pathogenic variants in GYG1.
• Comparing ultrastructural findings in rare myopathies based on described granular-fibrillar storage material and sarcomere abnormalities.

Strengths

• Provides detailed clinical and molecular characterization of a novel case, adding to the fewer than 50 reported cases with GYG1 defects.
• Includes specific histological and ultrastructural analysis findings, such as PAS-positive vacuoles and jagged Z-line appearance.
• Document is under a permissive CC-BY-4.0 license, facilitating reuse and sharing.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is a single PDF document of 148.3 KB, representing a very limited scope of one case report.

Provenance

Source

figshare

Collection Method

Likely a published or submitted medical case report.

Freshness

Last updated 2026-05-28 22:03:20; freshness should be verified.

Geography

Italy (case subject)