| P2093 | author name string | Nelson I | |
| | Warburg M | |
| | Lestienne P | |
| | Schmalbruch H | |
| | Nørby S | |
| | Sjö O | |
| | Nielsen IM | |
| P2860 | cites work | Sequence and organization of the human mitochondrial genome | Q27860659 |
| | Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases | Q28183160 |
| | A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction | Q28249352 |
| | Kearns-Sayre syndrome with muscle mitochondrial DNA deletion | Q28283495 |
| | Deletions of mitochondrial DNA in Kearns-Sayre syndrome | Q28297900 |
| | Mutations of the mitochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathies. | Q33918025 |
| | Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy | Q34312609 |
| | Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis | Q35197862 |
| | Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy | Q35198232 |
| | An Asian-specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians | Q35248114 |
| | Diseases of the mitochondrial DNA. | Q35671010 |
| | Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. | Q35907687 |
| | Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome | Q35950795 |
| | Mitochondrial DNA mutations in human diseases: a review | Q36090764 |
| | Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction | Q37631878 |
| | Mitochondrial and nuclear DNA complementation in the respiratory chain function and defects | Q38244978 |
| | Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms. | Q40450547 |
| | Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies | Q40531101 |
| | Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. | Q40552095 |
| | Variable genotype of Leber's hereditary optic neuropathy patients. | Q41730723 |
| | Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome | Q41777128 |
| | A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. | Q41951578 |
| | Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations | Q42058068 |
| | Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? | Q44622536 |
| | Deletion of blood mitochondrial DNA in pancytopenia | Q44936313 |
| | Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome | Q46963412 |
| | Preferential amplification and molecular characterization of junction sequences of a pathogenetic deletion in human mitochondrial DNA. | Q48286070 |
| | Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy. | Q52240438 |
| | Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies | Q59055292 |
| | Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming | Q61797401 |
| | Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome | Q63681446 |
| | Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy | Q67488090 |
| | Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies | Q68864777 |
| | Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome | Q68907896 |
| | A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies | Q70765918 |
| | The retinal manifestations of mitochondrial myopathy. A study of 22 cases | Q93657316 |
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Kearns-Sayre syndrome | Q2605012 |
| | psychosomatic disease | Q10267833 |
| | misdiagnosis | Q11631567 |
| P304 | page(s) | 45-50 | |
| P577 | publication date | 1994-01-01 | |
| P1433 | published in | Journal of Medical Genetics | Q14640281 |
| P1476 | title | Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder | |
| P478 | volume | 31 | |