Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene-Reference-Cited by-同舟云学术

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene

Published:2005-06 Issue:6 Volume:15 Page:409-411
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Musumeci Olimpia,Rodolico Carmelo,Nishino Ichizo,Guardo Giuseppe Di,Migliorato Alba,Aguennouz Mohammed,Mazzeo Anna,Messina Corrado,Vita Giuseppe,Toscano Antonio

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference10 articles.

1. Lysosomal glycogen storage with normal acid maltase;Danon;Neurology,2001

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

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

4. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice;Tanaka;Nature,2000

5. Disease model: LAMP-2 enlightens Danon disease;Saftig;Trends Mol Med,2001

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1. Danon Disease Presenting with Slowly Progressive Cardiomyopathy and Harboring a Novel Missense Variant in the Lysosome-associated Membrane Protein Type 2 (<i>LAMP-2</i>) gene: A Case Report;Internal Medicine;2024

2. Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement;International Journal of Molecular Sciences;2023-08-26

3. MYTHO is a novel regulator of skeletal muscle autophagy and integrity;Nature Communications;2023-03-02

4. LAMP2 Cardiomyopathy: Consequences of Impaired Autophagy in the Heart;Journal of the American Heart Association;2021-09-07

5. Lysosomal membrane disorders: lysosome-associated membrane protein-2 deficiency (Danon disease);Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020