A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA)mutation in exon 1 (D47N)

Kutbay, Nilufer; ŞARER YÜREKLİ, BANU; Onay, Huseyin; ALTAY, CANAN; ATİK, TAHİR; HEKİMSOY, ZELİHA; Saygili, Fusun; AKINCI, BARIŞ

doi:10.1016/j.ejim.2015.12.012

A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA)mutation in exon 1 (D47N)

Kutbay N. O., ŞARER YÜREKLİ B. P., Onay H., ALTAY C., ATİK T., HEKİMSOY Z., ...More

EUROPEAN JOURNAL OF INTERNAL MEDICINE, vol.29, pp.37-39, 2016 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 29
Publication Date: 2016
Doi Number: 10.1016/j.ejim.2015.12.012
Journal Name: EUROPEAN JOURNAL OF INTERNAL MEDICINE
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.37-39
Keywords: Diabetes, Insulin Resistance, Lipodystrophy, LMNA
Dokuz Eylül University Affiliated: Yes

Abstract

Background: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat which is associated with insulin resistant diabetes. The Dunnigan variety (FPL2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482.