# Genetic variability in the PLIN4 gene: A new sequence duplication causing autophagic vacuolar myopathy

**Authors:** Alessandra Carnazzi, Eliana Iannibelli, Sara Gibertini, Lucia Nicolini De Gaetano, Giorgia Riolo, Franco Salerno, Andrea Legati, Daniele Ghezzi, Lorenzo Maggi, Alessandra Ruggieri

PMC · DOI: 10.1016/j.gendis.2025.101849 · 2025-09-10

## Full-text entities

- **Genes:** PLIN4 (perilipin 4) [NCBI Gene 729359] {aka KIAA1881, MDRV, MRUPAV, S3-12}
- **Diseases:** autophagic vacuolar myopathy (MESH:C536522)

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12854863/full.md

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Source: https://tomesphere.com/paper/PMC12854863