Ishitsu T, Miike T, Kitano A, Haraguchi Y, Ohtani Y, Matsuda I, Shimoji A, Kimura H
Department of Pediatrics, Kumamoto University Medical School, Japan.
Neurology. 1987 Dec;37(12):1867-9. doi: 10.1212/wnl.37.12.1867.
Five patients with mitochondrial disorders in a single family showed marked heterogeneity of clinical signs and symptoms. Two patients had the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; one had blepharoptosis, seizures, and diabetes insipidus; and two had a nonspecific encephalomyopathic disorder. This family supports the concept of a "mitochondrial cytopathy."
一个家族中的五名线粒体疾病患者表现出明显的临床体征和症状异质性。两名患者患有线粒体肌病、脑病、乳酸性酸中毒和类卒中发作综合征；一名患者有上睑下垂、癫痫发作和尿崩症；两名患者患有非特异性脑肌病。这个家族支持“线粒体细胞病”的概念。
