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Article

Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature.

The Journal of international medical research - 1 Mar 2022

Pan Xiaoli, Yuan Yuan, Wu Bangcui, Zheng Wendan, Tian Mei

Abstract excerpt

A 26-year-old Asian woman with persistent muscle weakness was diagnosed with polymyositis based on biopsy findings at another hospital 11 years ago. However, her symptoms fluctuated repeatedly under treatment with prednisone and immunosuppressive agents, and worsened 2 months prior to the current presentation. A second muscle biopsy suggested metabolic myopathy, and genetic testing revealed a novel c.1074C > T...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35296144
DOI: 10.1177/03000605221084873
PMCID: PMC8943314

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