Determining the molecular mechanisms and environmental modifiers of progressive liver disease in X-linked myotubular myopathy
2022
Dr. Emanuela Pannia
Research Institute, Hospital for Sick Children, Toronto, Ontario
Lead investigator
Dr. Emanuela Pannia
Research Institute, Hospital for Sick Children
Toronto, Ontario
Collaborators & Co-Investigators
- James Dowling, MD, PhD
Research Sites & Affiliations
- The Hospital for Sick Children, Toronto, Ontario
Budget: $40,000
Disorders: X-linked myotubular myopathy , Centronuclear myopathy , Congenital Mopathies
Abstract:The goal of this study is to identify the cause of liver disease in X-linked myotubular myopathy (XLMTM) and the effects of diet and the immune system on its development. This study will be the first to identify causes of liver disease in XLMTM and discover new therapies to help children with this devastating disease.
Impact: