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- W3029673898 abstract "核基因和(或)线粒体基因异常均可导致线粒体病的发生,且具有遗传基因和临床表型的广泛异质性.线粒体病最常见的损害部位是脑、骨骼肌和心肌.此外,还可看到系统性损害如身材矮小、糖尿病、胃肠道症状和肝脏功能衰竭等.不同系统损害的症状组合构成了不同的临床综合征,有时也可见到不同临床表型的叠加.现报道mtDNA G13513A突变导致的多种表型叠加的线粒体脑肌病1例。" @default.
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- W3029673898 date "2009-10-08" @default.
- W3029673898 modified "2023-09-25" @default.
- W3029673898 title "线粒体DNA G13513A突变导致的线粒体脑肌病一例" @default.
- W3029673898 doi "https://doi.org/10.3760/cma.j.issn.1006-7876.2009.10.020" @default.
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