Clinical Research Directory

Inclusion Criteria: * male \& female from age 0 to 75. * A genetically confirmed POLG -associated disorder based on both phenotype and genotype is required. * Parental/guardian permission (informed consent) and if appropriate with child assent. Exclusion Criteria: * Diagnosis of mitochondrial disorder other than POLG * Subject with POLG Variant of unknown significance or benign variant. * Parents/guardians or subjects who, in the opinion of the investigator, may be non-compliant with the study schedules or procedures. * Subjects unable or unwilling to provide informed consent. * History of or current clinically important condition other than what is related to the PMD which, in the opinion of the Investigator will confound the results of the NHS.