1. Metabolism - Clinical and Experimental
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy 
Baris Akinci, Huseyin Onay, Tevfik Demir, Şenay Savas-Erdeve, Ramazan Gen, Ilgin Yildirim Simsir, Fatma Ela Keskin, Mehmet Sercan Erturk, Ayse Kubat Uzum, Guzin Fidan Yaylali, Nilufer Kutbay Ozdemir, Tahir Atik, Samim Ozen, Banu Sarer Yurekli, Tugce Apaydin, Canan Altay, Gulcin Akinci, Leyla Demir, Abdurrahman Comlekci, Mustafa Secil, Elif Arioglu Oral 
Metabolism - Clinical and Experimental 
Volume 72, Pages (July 2017)
DOI: /j.metabol
Copyright © 2017 Elsevier Inc. Terms and Conditions

2. Fig. 1
MR images of Turkish patients with various LMNA pathogenic variants. (A) Female control. (B) Patient 2.1, 30-year-old female with exon 8 LMNA p.R482W (c.1444C➔T) pathogenic variant. (C) Patient 5.1, 18-year-old female with exon 5 LMNA p.L306V (c.916C➔G) pathogenic variant. (D) Patient 6.1, 31-year-old female with exon 1 LMNA p.D47N (c.139G➔A) pathogenic variant. (E) Patient 7.1, 48-year-old female with exon 11 LMNA p.R582H (c.1745G➔A) pathogenic variant. (F) Patient 8.1, 49-year-old female with exon 9 LMNA p.T528M (c.1583C➔T) pathogenic variant. Axial T1 weighted images at the level of the head and neck (I), the trunk (II), abdomen (III), gluteal region (IV), upper arm (V), forearm (VI), upper leg (VII), and lower leg (VIII) reveal fat distribution of the body and extremities.
Metabolism - Clinical and Experimental  , DOI: ( /j.metabol )
Copyright © 2017 Elsevier Inc. Terms and Conditions

3. Fig. 2
Distinctive fat loss pattern of FPLD caused by exon 6 LMNA p.R349W (c.1045C➔T) pathogenic variant. (
A) Male control.
(B) Patient 9.2, 16-year-old male with exon 6 LMNA p.R349W (c.1045C➔T) pathogenic variant.
Whole body T1 weighted images (I); axial T1 WIs at the level of the head and neck (II), abdomen (IV), upper leg (V), and lower leg (VI) show fat distribution of the body and extremities. Dual phase T1 weighted images (VII, VIII) and MRS spectra images indicate moderate degree of hepatic steatosis (IX).
Metabolism - Clinical and Experimental  , DOI: ( /j.metabol )
Copyright © 2017 Elsevier Inc. Terms and Conditions

4. Fig. 3
Comparison of MR images of Turkish patients with PPARG pathogenic variants to those with typical exon 8 codon 482 LMNA pathogenic variants (A–D). Panels e and f also show FPLD phenotype in a female subject with exon 5 p.R215Q (c.643G➔A) variant of the LMNB2. Her mother with the same point variation of the LMNB2 gene has no lipodystrophy suggesting a non-pathogenic role in this family. (A) Female control. (B) Patient 2.1, 30-year-old female with exon 8 LMNA p.R482W (c.1444C➔T) pathogenic variant. (C) Patient 10.1, 24-year-old female with exon 3 PPARG p.Y151C (c.452A➔G) pathogenic variant. (
D) Patient 12.2, 28-year-old female with exon 7 PPARG p.H477L (c.1346A➔T) pathogenic variant.
(E) Patient 13.1, 23-year-old female subject with exon 5 LMNB2 p.R215Q (c.643G➔A) variant. (
F) Her mother has the same variant of the LMNB2 gene (p.R215Q), but no lipodystrophy phenotype. Whole body T1 weighted images (I); axial T1 WIs at the level of the head and neck (II), trunk (III), abdomen (IV), upper leg (V), and lower leg (VI) show fat distribution of the body and extremities. Dual phase T1 weighted images (VII, VIII) and MRS spectra images show the degree of hepatic steatosis (IX).
Metabolism - Clinical and Experimental  , DOI: ( /j.metabol )
Copyright © 2017 Elsevier Inc. Terms and Conditions

5. Suppl. Fig. 1
Pedigrees of Turkish FPLD families with LMNA and PPARG pathogenic variants
Metabolism - Clinical and Experimental  , DOI: ( /j.metabol )
Copyright © 2017 Elsevier Inc. Terms and Conditions