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The role of genetic mutations in genes LMNA, PPARG, PLIN1, AKT2, CIDEC in Köbberling–Dunnigan Syndrome

Published on: 22nd February, 2019

OCLC Number/Unique Identifier: 8022277557

Köbberling-Dunnigan syndrome, also known as partial familial lipodystrophy, is a rare genetic disorder characterized by abnormal distribution of adipose tissues. Many people with Köbberling-Dunnigan syndrome develop insulin resistance, a condition in which body tissues cannot adequately respond to insulin hormone. Insulin is a hormone that helps regulate the level of your blood glucose. Köbberling-Dunnigan syndrome can be due to mutations in several different genes. However, type 2 Köbberling-Dunnigan syndrome is caused by the mutation of the LMNA gene, which is located on the long arm of chromosome 1 as 1q22.
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