Molecular and histologic insights on early onset cardiomyopathy in Danon disease females-Reference-Cited by-同舟云学术

Molecular and histologic insights on early onset cardiomyopathy in Danon disease females

Published:2020-11-23 Issue:3 Volume:99 Page:481-483
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Fernández Luis¹²^ORCID,Casamayor Polo Laura¹²,Bravo García‐Morato María¹²^ORCID,Enguita Valls Ana Belén³,Ruiz‐Bravo Elena⁴,Muñoz‐Cabello Patricia¹²,Ibáñez Kristina¹²,Rodríguez‐Laguna Lara¹²,Martín‐Arenas Rubén¹²,Ortega Marta⁵,Palomares‐Bralo María¹²^ORCID,Pozo Ángela¹²,García‐Guereta Luis⁵,García‐Miñaúr Sixto¹²,Lapunzina Pablo¹²,Vallespín Elena¹²

Affiliation:

1. Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz Research Institute (IdiPAZ), Hospital Universitario La Paz Madrid Spain

2. Biomedical Research Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), CB06/07/1005, U753 Madrid Spain

3. Department of Anatomic Pathology Hospital Universitario 12 de Octubre Madrid Spain

4. Department of Anatomic Pathology Hospital Universitario La Paz Madrid Spain

5. Department of Pediatric Cardiology Hospital Universitario La Paz Madrid Spain

Funder

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13884

Reference5 articles.

1. Early onset cardiomyopathy in females with Danon disease

2. A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review

3. Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency

4. A novelLAMP2p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy

5. Alu ‐mediated Xq24 deletion encompassing CUL4B , LAMP2 , ATP1B4 , TMEM255A , and ZBTB33 genes causes Danon disease in a female patient

Cited by 3 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. Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease;Molecular Genetics & Genomic Medicine;2023-06-08

2. Hypertrophic cardiomyopathy in a girl with Danon disease;Russian Journal for Personalized Medicine;2023-05-20

3. Danon Cardiomyopathy: Asymmetric Hypertrophy and Extensive Scarring in an Explanted Heart;AJSP: Reviews and Reports;2021-05