This website provides information on patients with mutations in the POLG2gene, including clinical data, molecular data, management, and research options.
Syndromes caused by mutations in the POLG2gene are multisystem disorders that can affect various organs and tissues in the body. The clinical features and severity of the disease can vary widely, depending on the type and location of the mutations and other factors.
Some of the common clinical features associated with POLG-related syndromes include:
Muscle weakness and wasting: Patients may experience progressive external ophthalmoplegia (PEO), which is weakness of the eye muscles, as well as muscle weakness and wasting in the limbs and trunk.
In general, POLG2-related syndromes are progressive and can be life-threatening, especially in early-onset cases. Early diagnosis and management are crucial for improving outcomes and quality of life for affected individuals.
Not all individuals with a mutation in the POLG2gene have these features.
This website was created to share and collect information about clinic, management, and research projects to gather more knowledge and provide better treatment of patients with mutations in the POLG2gene.
William C Copeland, PhD, National Institute of Environmental Health Sciences, National Institutes of Health, Durham, North Carolina, USA, copelan1@niehs.nih.gov