Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

Carlos T. Moraes, Salvatore DiMauro, Massimo Zeviani, +17

New England Journal of Medicine

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

Massimo Zeviani, Carlos T. Moraes, S. DiMauro, +4

Neurology

Mitochondrial MyopathyMendelian DisorderMitochondrial FunctionGenetic DisorderNatural Sciences +11

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Carlos T. Moraes, Sara Shanske, Hans Tritschler, +5

PubMed

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Agnès Rötig, Stéphane Blanche, Jean‐Paul Bonnefont, +6

Journal of Clinical Investigation

GeneticsGenetic EpidemiologyPathologyOxidative StressOther Syndromes +14

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA

Shuji Mita, Rosario Rizzuto, Carlos T. Moraes, +6

Nucleic Acids Research

Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome

Nils‐Göran Larsson, Elisabeth Holme, B. Kristiansson, +2

Pediatric Research

BiologyKearns-sayre SyndromeMendelian DisorderMitochondrial FunctionGenetic Disorder +9

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

M A McShane, Simon Hammans, M G Sweeney, +4

PubMed

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.

Shuji Mita, Beny Schmidt, Eric A. Schon, +2

Proceedings of the National Academy of Sciences

Kearns-sayre SyndromeGeneticsMolecular BiologyPathologyMolecular Genetics +14

Clinical aspects of mitochondrial disorders

Arnold Münnich, Pierre Rustin, Agnès Rötig, +9

Journal of Inherited Metabolic Disease

New clinical approach to evaluate disorders of potassium excretion.

Michael L. West, Philip A. Marsden, Robert Richardson, +2

PubMed

HypertonicityUrologyRenal FunctionElectrolyte DisorderSodium Homeostasis +12