P343: Beyond the gene panel: Identification of a novel HSPB8 frameshift variant in an adult with progressive myopathy
Abstract
The proband presented to Clinical Genetics for counseling and guidance on management based on the reported HSPB8 variant. While no clinical guidelines have been established, reports of affected individuals indicate progressive muscle weakness with possible pulmonary muscle involvement and rarely cardiac involvement. As such, referrals to Cardiology, Pulmonology and Neuromuscular specialists were recommended for comprehensive multidisciplinary care. As the proband has three teenage and adult children, familial testing was recommended for his children and the proband’s brother.
Fields of Study & Subjects
Muscle Physiology and Disorders
Genomics and Rare Diseases
Cardiomyopathy and Myosin Studies
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103837–103837
- Publication date
- 1 January 2026
- Language
- EN