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Article

The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.

Turkish journal of medical sciences - 1 Aug 2022

Han Jingzhe, Lu Shan, Song Xueqin, Jı Guang, Xıe Yanan, Wu Hongran

Abstract excerpt

BACKGROUND: The lipid storage myopathy (LSM) diagnosis is based on the patient's clinical manifestations and muscle pathology. However, when genetic testing is lacking, there is a high rate of misdiagnosis of the disease. This study aimed to investigate the clinical and pathological features of genetically diagnosed LSM in northern China, analyze genetic mutations' characteristics, and improve the LSM diagnostic...

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Share to Electron-Transferring Flavoproteins
Share to Iron-Sulfur Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipid Metabolism, Inborn Errors

Share to Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Share to Muscular Dystrophies

Share to Mutation

Share to Oxidoreductases Acting on CH-NH Group Donors

Source

Open in PubMed Open full text

Identifiers

PMID: 36326420
DOI: 10.55730/1300-0144.5431
PMCID: PMC10388001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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