Related Experiment Video
Updated: Aug 10, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Case Report: Danon Disease: Six Family Members and Literature Review
Yuanyuan Wang1, Meixue Jia1, Yingjie Guo1
1Department of Cardiology, People's Hospital of Fuyang, Fuyang, China.
Abstract:
Danon disease is a rare X-linked dominant genetic disorder that manifests with a clinical triad of cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by mutations in the lysosome-associated membrane 2 (LAMP2) gene. We report one case of Danon disease and his family members, characterized by ventricular pre-excitation, ventricular hypertrophy, abnormal muscle enzymes, and aberrant liver function. All the patients were confirmed to have Danon disease through genetic screening. Relevant literature was reviewed as a reference for the diagnosis and treatment of the disease.
More Related Videos
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
07:50A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Related Concept Videos
Pedigree Analysis
Sex-linked Disorders
Single Nucleotide Polymorphisms-SNPs
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Investigation of Disease Outbreaks
Parkinson Disease l: Introduction