Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene-Reference-Cited by-同舟云学术

Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene

Published:2016-05-05 Issue:6 Volume:36 Page:561-565
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Sugie Kazuma¹²,Yoshizawa Hiroyuki³,Onoue Kenji⁴,Nakanishi Yoko⁵,Eura Nobuyuki¹,Ogawa Megumu²,Nakano Tomoya⁴,Sakaguchi Yasuhiro⁴,Hayashi Yukiko K.²,Kishimoto Toshifumi⁵,Shima Midori³,Saito Yoshihiko⁴,Nishino Ichizo²,Ueno Satoshi¹

Affiliation:

1. Department of Neurology; Nara Medical University School of Medicine; Kashihara Nara Japan

2. Department of Neuromuscular Research; National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Kodaira Tokyo Japan

3. Department of Pediatrics; Nara Medical University School of Medicine; Kashihara Nara Japan

4. First Department of Internal Medicine; Nara Medical University School of Medicine; Kashihara Nara Japan

5. Department of Psychiatry; Nara Medical University School of Medicine; Kashihara Nara Japan

Publisher

Wiley

Subject

Neurology (clinical),General Medicine,Pathology and Forensic Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/neup.12307/fullpdf

Reference16 articles.

1. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease);Nishino;Nature,2000

2. Clinicopathological features of genetically confirmed Danon disease;Sugie;Neurology,2002

3. Lysosomal glycogen storage disease with normal acid maltase;Danon;Neurology,1981

4. Danon disease and related disorders;Nishino;Acta Myologica,2001

5. Characterization of Danon disease in a male patient and his affected mother;Sugie;Neuromuscul Disord,2003

Cited by 24 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. A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms;Pharmacogenomics and Personalized Medicine;2023-08

2. 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

3. Identification of a novel splicing‐altering LAMP2 variant in a Chinese family with Danon disease;ESC Heart Failure;2023-06-05

4. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review;International Journal of Molecular Sciences;2023-05-11

5. De novo LAMP2 insertion mutation causes cardiac-only Danon disease: A case report;Frontiers in Cardiovascular Medicine;2022-09-16