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1. MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.
2. Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myocloni…
3. MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient.
4. Detection of known base substitution mutations in human mitochondrial DNA of MERRF and MELAS by bioc…
5. MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.

1. Global Registry and Natural History Study for Mitochondrial Disorders
2. Pilot Trial to Evaluate The Effect of Oral Methylprednisolone on Seizure Frequency in Children With …
3. Mitochondrial nt3243 A>G Mutation in Taiwan
4. A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial…
5. A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Partici…