Endocrine Abstracts

Introduction: Patients with mitochondrial disease have abnormal cellular adenosine triphosphate (ATP) generation that results in a broad phenotype with a diverse clinical presentation. Abnormal growth and short stature have been observed in children and adults with mitochondrial disease and we hypothesized that stature in affected individuals would reflect disease severity.Method: We extracted height, weight and molecular genetic data from the UK Mitocho...