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线粒体DNA缺失综合征1例及文献回顾

Y H Zhu,Q J Zhang,Q J Wang

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery（2019）

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Abstract
线粒体是能量代谢的重要场所,线粒体基因组突变或核基因组上编码线粒体蛋白的基因突变,均可能导致疾病的发生.线粒体突变类型包括点突变、大片段缺失/重复和线粒体数量的减少,线粒体突变导致的疾病既有组织特异性的非综合征型疾病(如感音神经性聋[1-2]、LHON视神经病变[3]、Ⅱ型糖尿病[4]等),也有涉及多系统的综合征型疾病(MERRF综合征[5]、MELAS综合征[6]等).
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Key words
Fanconi syndrome,mitochondrial DNA deletion,sensorineural hearing loss
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