A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy-Reference-Cited by-同舟云学术

A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy

Published:2008-07 Issue:1 Volume:69 Page:61-68
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Araújo-Vilar David,Lado-Abeal Joaquin,Palos-Paz Fernando,Lattanzi Giovanna,Bandín Manuel A.,Bellido Diego,Domínguez-Gerpe Lourdes,Calvo Carlos,Pérez Oscar,Ramazanova Alia,Martínez-Sánchez Noelia,Victoria Berta,Costa-Freitas Ana Teresa

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2007.03146.x/fullpdf

Reference44 articles.

1. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy

2. Nuclear Lamins: Their Structure, Assembly, and Interactions

3. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

4. Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

5. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

Cited by 39 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes;International Journal of Molecular Sciences;2024-08-28

2. Mineralocorticoid Receptor Antagonism Prevents Type 2 Familial Partial Lipodystrophy Brown Adipocyte Dysfunction;Cells;2023-11-07

3. Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review;The Journal of Clinical Endocrinology & Metabolism;2023-10-16

4. Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy;Laboratory Medicine;2023-05-29

5. Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review;Cells;2023-02-24