Flier J S
Nat Genet. 2000 Feb;24(2):103-4. doi: 10.1038/72734.
Autosomal dominant partial lipodystrophy (PLD), in which regional adipose loss is coupled with insulin resistance, is strongly associated with missense mutations in LMNA, encoding lamin A/C-a component of the nuclear envelope. This finding indicates that other proteins and functions of the nuclear envelope may have bearing on disorders of adipose tissue and insulin action.
常染色体显性遗传性部分脂肪营养不良（PLD），其特征为局部脂肪缺失并伴有胰岛素抵抗，与编码核纤层蛋白A/C（核膜的一个组成成分）的LMNA基因中的错义突变密切相关。这一发现表明，核膜的其他蛋白质和功能可能与脂肪组织疾病及胰岛素作用有关。
