脂质沉积性肌病是由于影响脂质代谢的一些酶或肉毒碱等缺乏而导致长链脂肪酸代谢障碍,异常的脂滴聚集在肌纤维细胞,临床以四肢近端为主的肌无力、萎缩、疲劳不耐受为特点。尽管脂质沉积性肌病的分子生物学已经得到广泛的研究,但是基因学确诊的只有以下四种:原发性肉碱缺乏 Lipid deposition myopathy is due to the lack of lipid metabolism of some enzymes or carnitine and other lead to long-chain fatty acid metabolism disorders, abnormal lipid droplets gathered in the myofibroblasts, clinically limbs proximal muscle weakness, atrophy , Fatigue intolerance characteristics. Although the molecular biology of lipid deposition myopathy has been extensively studied, only four of the following are diagnosed genetically: primary carnitine deficiency