Pellegrini G, Scarlato G, Moggio M
J Neurol. 1980;223(2):73-84. doi: 10.1007/BF00313171.
A case of lipid storage myopathy with systemic carnitine deficiency is reported. There was lipid storage also in the liver but not in leukocytes or the Schwann cells of peripheral nerves. Carnitine concentration was normal in the father but below normal in the mother's muscle where abnormal accumulations of lipid droplets and mitochondria were present between the myofibrils and beneath the sarcolemmal sheath. Histographic analysis demonstrated type I fiber predominance in the patient and in his parents. Hereditary transmission of the disease through a recessive autosomal mechanism might be admitted in this case.
报告了一例伴有全身性肉碱缺乏的脂质贮积性肌病。肝脏中也存在脂质贮积，但白细胞或周围神经的施万细胞中没有。父亲的肉碱浓度正常，但母亲的肌肉中低于正常水平，在肌原纤维之间和肌膜鞘下方存在脂质滴和线粒体的异常积聚。组织学分析表明，患者及其父母均以I型纤维为主。在这种情况下，可能存在通过隐性常染色体机制的疾病遗传传递。
