Cardiac laminopathy in familial partial lipodystrophy type 2 secondary to variants in the LMNA gene

被引:0
|
作者
Moreno Tirado, Antonio [1 ]
Rodriguez Ortega, Pilar [1 ]
Calle Isorna, Jose Maria [2 ]
机构
[1] Hosp Univ Juan Ramon Jimenez, Huelva, Spain
[2] Hosp Univ Virgen Macarena, Huelva, Spain
来源
MEDICINA CLINICA | 2024年 / 163卷 / 12期
关键词
D O I
10.1016/j.medcli.2024.06.007
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:634 / 635
页数:2
相关论文
共 50 条
  • [31] Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2;: MIM 151660)
    Lanktree, M.
    Cao, H.
    Rabkin, S. W.
    Hanna, A.
    Hegele, R. A.
    CLINICAL GENETICS, 2007, 71 (02) : 183 - 186
  • [32] A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies
    Treiber, Guillaume
    Furmaniuk, Ania Flaus
    Guilleux, Alice
    Medjane, Samir
    Bonfanti, Oriane
    Schneebeli, Stephane
    Bernard, Celine
    Le-Moullec, Nathalie
    Bakiri, Faouzi
    Pholsena, Maryse
    Rollot, Olivier
    Vatier, Camille
    Jarlet, Eric
    Jeru, Isabelle
    Lascols, Olivier
    Darcel, Francoise
    Domun, Bhoopendrasing
    Venault, Adrien
    Venault, Sophie
    Jacquemont, Marie-Line
    Doray, Berenice
    Maiza, Jean-Christophe
    Cogne, Muriel
    Vigouroux, Corinne
    Nobecourt, Estelle
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2021, 185 (04) : 453 - 462
  • [33] Prevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2
    Lazarte, Julieta
    Wang, Jian
    McIntyre, Adam D.
    Hegele, Robert A.
    JOURNAL OF CLINICAL LIPIDOLOGY, 2021, 15 (05) : 653 - 657
  • [34] Clinical Utility Gene Card for: Familial partial lipodystrophy
    Jeru, Isabelle
    Vatier, Camille
    Araujo-Vilar, David
    Vigouroux, Corinne
    Lascols, Olivier
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 (02) : 271 - 271
  • [35] Clinical Utility Gene Card for: Familial partial lipodystrophy
    Isabelle Jéru
    Camille Vatier
    David Araujo-Vilar
    Corinne Vigouroux
    Olivier Lascols
    European Journal of Human Genetics, 2017, 25 : 271 - 271
  • [36] The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene
    Shchagina, Olga
    Gilazova, Leisan
    Filatova, Alexandra
    Vafina, Zulfiia
    Murtazina, Aysylu
    Chigvintceva, Polina
    Kudryashova, Olga
    Polyakov, Aleksander
    Kutsev, Sergey
    Bulakh, Maria
    Skoblov, Mikhail
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2025, 26 (03)
  • [37] The RARB gene is hypermethylated in patients with Familial Partial Lipodystrophy compared to patients with other LMNA/C mutations or healthy controls.
    Cortese, Rene
    Eckhardt, Florian
    Koelsch, Uwe
    Brune, Thomas
    EUROPEAN JOURNAL OF PEDIATRICS, 2007, 166 (03) : 282 - 282
  • [38] Kobberling type of familial partial lipodystrophy - An underrecognized syndrome
    Herbst, KL
    Tannock, LR
    Deeb, SS
    Purnell, JQ
    Brunzell, JD
    Chait, A
    DIABETES CARE, 2003, 26 (06) : 1819 - 1824
  • [39] A rare cause of type 2 diabetes, dyslipidaemia and pancreatitis: familial partial lipodystrophy: presentation of a family with lipodystrophy
    Molnar, G. A.
    Sanchez Iglesias, S.
    Csajbok, E.
    Nagy, Z.
    Araujo-Vilar, D.
    Wittmann, I.
    DIABETOLOGIA, 2020, 63 (SUPPL 1) : S152 - S152
  • [40] A rare lipodystrophy syndrome with familial partial lipodystrophy 2 (FPLD2)
    Gautama, Hendra Ikhwan
    Prajitno, Jongky Hendro
    BALI MEDICAL JOURNAL, 2023, 12 (03) : 2424 - 2429