Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease

F Scaglia, JA Towbin, WJ Craigen, JW Belmont… - …, 2004 - publications.aap.org
Objectives. The aim of this study was to elucidate the frequency of major clinical
manifestations in children with mitochondrial disease and establish their clinical course,
prognosis, and rates of survival depending on their clinical features. Methods. We performed
a retrospective review of the medical records of 400 patients who were referred for
evaluation of mitochondrial disease. By use of the modified Walker criteria, only patients
who were assigned a definite diagnosis were included in the study. Results. A total of 113 …