由核纤层蛋白A/C基因突变引起的家族性部分脂肪营养不良女性的体脂分布。
Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene.
作者信息
Monteiro Luciana Z, Foss-Freitas Maria C, Júnior Montenegro Renan M, Foss Milton C
机构信息
Department of Medicine, Divisions of Endocrinology and Metabolism, Ribeirão Preto Medical School, São Paulo University, Brazil.
出版信息
Indian J Endocrinol Metab. 2012 Jan;16(1):136-8. doi: 10.4103/2230-8210.91209.
Abstract
Familial partial lipodystrophy (FPLD), Dunnigan variety, is an autosomal dominant disorder caused due to missense mutations in the lamin A/C (LMNA) gene encoding nuclear lamina proteins. Patients with FPLD are predisposed to metabolic complications of insulin resistance such as diabetes. We sought to evaluate and compare body fat distribution with dual-emission X-ray absorptiometry in women with and without FPLD and identify densitometric, clinical and metabolic features.
摘要
家族性部分脂肪营养不良（FPLD），邓尼根型，是一种常染色体显性疾病，由编码核纤层蛋白的核纤层蛋白A/C（LMNA）基因中的错义突变引起。FPLD患者易患胰岛素抵抗的代谢并发症，如糖尿病。我们试图评估和比较患有和未患有FPLD的女性的身体脂肪分布，并通过双能X线吸收法确定密度测定、临床和代谢特征。
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本文引用的文献
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