LMNA公司
脂肪营养不良
医学
胰岛素抵抗
拉明
疾病
代谢综合征
生物信息学
内科学
内分泌学
遗传学
基因
糖尿病
生物
免疫学
病毒载量
抗逆转录病毒疗法
人类免疫缺陷病毒(HIV)
作者
Cheng Xiao,Jie-Ying Liu,Chun-Ru Yang,Miao Yu
出处
期刊:PubMed
日期:2022-10-20
卷期号:44 (10): 913-925
标识
DOI:10.16288/j.yczz.22-225
摘要
Lipodystrophy syndrome caused by LMNA gene mutation is a group of autosomal dominant monogenic diseases, characterized by selective fat loss and metabolic abnormalities with insulin resistance. In this review, we summarize the clinical manifestations caused by multiple pathogenic LMNA mutations reported so far, including metabolic complications, cardiovascular abnormalities, gonadal axis disorders, myopathy, and renal abnormalities. Meanwhile, we also clarify the possible pathogenic mechanism, diagnosis, and treatment, in order to improve the understanding of the disease and to provide a reference for basic research and clinical diagnosis and treatment of this disease.
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