P351: Mutation of a cysteine residue in LAMP2 affecting a disulfide bridge in a patient with Danon disease
Abstract
The patient was started on esmolol, then achieved arrhythmia control after transition to metoprolol. He was referred to neuromuscular clinic for baseline exam and annual evaluation, ophthalmology for baseline exam with ERG and color vision testing, and to hepatology to monitor liver function. He had an AICD placed.
Fields of Study & Subjects
Glycogen Storage Diseases and Myoclonus
Lysosomal Storage Disorders Research
Genomics and Rare Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103845–103845
- Publication date
- 1 January 2026
- Language
- EN