Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARγ mutation (Y151C)

Aims/hypothesis Familial partial lipodystrophy (FPLD) is a rare metabolic disorder with clinical features that may not be readily recognised. As FPLD patients require a specific therapeutic approach, early identification is warranted. In the present study we aimed to identify cases of FPLD among non...

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Bibliographic Details
Published in:	Diabetologia Vol. 54; no. 7; pp. 1639 - 1644
Main Authors:	Visser, M. E., Kropman, E., Kranendonk, M. E., Koppen, A., Hamers, N., Stroes, E. S., Kalkhoven, E., Monajemi, H.
Format:	Journal Article
Language:	English
Published:	Berlin/Heidelberg Springer-Verlag 01.07.2011 Springer
Subjects:	Adult Aged Biological and medical sciences Body mass Dermatology Diabetes Diabetes Mellitus, Type 2 - drug therapy Diabetes Mellitus, Type 2 - genetics Diabetes. Impaired glucose tolerance DNA Endocrine pancreas. Apud cells (diseases) Endocrinopathies Etiopathogenesis. Screening. Investigations. Target tissue resistance Evaluation Female Hormones Human Physiology Humans Insulin - administration & dosage Insulin - therapeutic use Insulin Resistance - genetics Insulin Resistance - physiology Internal Medicine Lipodystrophy, Familial Partial - diagnosis Lipodystrophy, Familial Partial - genetics Male Measurement Medical sciences Medicine Medicine & Public Health Metabolic Diseases Middle Aged Mutation Objectives Patients PPAR gamma - genetics Short Communication Skin involvement in other diseases. Miscellaneous. General aspects Y151C FPLD LMNA Insulin resistance Lipodystrophy Type 2 diabetes mellitus PPARγ BMI Endocrinopathy Type 2 diabetes Human Skin disease Metabolic diseases Target tissue resistance Adipose tissue disorders Mutation
ISSN:	0012-186X, 1432-0428, 1432-0428
Online Access:	Get full text
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