Rosing H S, Hopkins L C, Wallace D C, Epstein C M, Weidenheim K
Ann Neurol. 1985 Mar;17(3):228-37. doi: 10.1002/ana.410170303.
A family is described with familial myoclonic epilepsy associated with mitochondrial myopathy. The disorder follows a maternal inheritance pattern consistent with a mitochondrial DNA (mtDNA) mutation. The large kindred permitted exclusion of autosomal dominant, recessive, and X-linked patterns of transmission. Several characteristics of the inheritance and variability of expression within the pedigree are consistent with recently acquired knowledge about the genetics of human mtDNA. The clinical spectrum of disease is compatible with a proportionality model of mutant and wild-type mtDNAs. Muscle biopsies of affected patients showed an increased number of abnormal muscle mitochondria. Serum levels of pyruvate or pyruvate and lactate were elevated. The most severely affected patient had constant myoclonic jerking, dementia, ataxia, spasticity, hearing loss, and hypoventilation. Cerebral dysfunction in patients with mild involvement was marked by prominent photic driving seen on electroencephalograms and high-amplitude visual and somatosensory evoked responses but no myoclonus, ataxia, or dementia. The individual clinical features of the disease worsen over time for all patients; however, mildly affected patients have not become moderately affected and moderately affected patients have not become severely affected.
本文描述了一个患有与线粒体肌病相关的家族性肌阵挛性癫痫的家族。该疾病遵循与线粒体DNA（mtDNA）突变一致的母系遗传模式。这个大家族排除了常染色体显性、隐性和X连锁的遗传模式。家系中遗传和表达变异性的几个特征与最近获得的关于人类mtDNA遗传学的知识一致。疾病的临床谱与突变型和野生型mtDNA的比例模型相符。受影响患者的肌肉活检显示异常肌肉线粒体数量增加。丙酮酸或丙酮酸和乳酸的血清水平升高。受影响最严重的患者持续出现肌阵挛抽搐、痴呆、共济失调、痉挛、听力丧失和通气不足。轻度受累患者的脑功能障碍表现为脑电图上明显的光驱动以及高振幅视觉和体感诱发电位，但无肌阵挛、共济失调或痴呆。随着时间的推移，所有患者的疾病个体临床特征都会恶化；然而，轻度受累患者并未发展为中度受累，中度受累患者也未发展为重度受累。
