Borum P R, Park J H, Law P K, Roelops R I
J Neurol Sci. 1978 Aug;38(1):113-21. doi: 10.1016/0022-510x(78)90251-4.
Low levels of muscle carnitine have been found in patients with Duchenne dystrophy, a case possibly of Becker dystrophy, and limb-girdle syndrome as well as in patients with the recently described muscle carnitine deficiency syndrome. Tissues of the mouse, hamster, and chicken were analyzed to determine whether tissue carnitine levels were altered in the animal models of muscular dystrophy. Significantly higher levels of carnitine were found in dystrophic mouse muscle, but carnitine levels in plasma, liver and heart were normal. Histological changes in the skeletal muscle of dystrophic hamsters were relatively mild, and both skeletal muscle and plasma levels were normal. The liver carnitine level was higher than normal levels. The dystrophic hamster also had an inherited cardiomyopathy, and interestingly its heart carnitine level was much lower than normal. The red muscle of the normal chicken contained 5 times the level of carnitine found in white muscle. The dystrophic chicken had higher than normal levels of carnitine in the white muscle, but normal levels in the red muscle. Although all 3 animal models of muscular dystrophy studied have altered levels of carnitine in some tissue, none of the animal models had the same pattern of altered tissue carnitine levels seen in human patients.
在杜兴氏肌营养不良症患者、可能患有贝克氏肌营养不良症的患者、肢带型肌营养不良症患者以及最近描述的肌肉肉碱缺乏综合征患者中，均发现肌肉肉碱水平较低。对小鼠、仓鼠和鸡的组织进行了分析，以确定在肌肉营养不良症动物模型中组织肉碱水平是否发生改变。在营养不良的小鼠肌肉中发现肉碱水平显著升高，但血浆、肝脏和心脏中的肉碱水平正常。营养不良的仓鼠骨骼肌的组织学变化相对较轻，骨骼肌和血浆水平均正常。肝脏肉碱水平高于正常水平。营养不良的仓鼠还患有遗传性心肌病，有趣的是其心脏肉碱水平远低于正常水平。正常鸡的红色肌肉中肉碱水平是白色肌肉中的5倍。营养不良的鸡白色肌肉中的肉碱水平高于正常水平，但红色肌肉中的水平正常。尽管所研究的所有3种肌肉营养不良症动物模型在某些组织中肉碱水平都发生了改变，但没有一种动物模型具有与人类患者相同的组织肉碱水平改变模式。
