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Source: Turkish Journal of Medical Sciences
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Total 184 results found since Jan 2013.
The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China
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 rate.METHODS: Twenty patients with LSM diagnosed were collected; meanwhile, the clinical data, muscle samples, and routine pathological staining of muscle specimens were collected. The morphological changes of muscle fibers were observed under an optical microscope.RESULTS: Among the included patients, 18 cases had ETFDH (HGNC ID: 3483) mutations, and two had PNPLA2 mutations. Family pedigree verification was performed on three pati...
Source: Turkish Journal of Medical Sciences - November 3, 2022 Category: General Medicine Authors: Jingzhe Han Shan Lu Xueqin Song Guang J ı Yanan X ıe Hongran Wu Source Type: research
