| 1 | KSS, MT-ATP8
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| A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
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| Jonckheere AI, Hogeveen M, Nijtmans LG, van den Brand MA, Janssen AJ, Diepstra JH, van den Brandt FC, van den Heuvel LP, Hol FA, Hofste TG, Kapusta L, Dillmann U, Shamdeen MG, Smeitink JA, Rodenburg RJ.
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| J Med Genet 45(3):129-33. Epub 2007 Oct 22. 2008
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| 2 | KSS
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| Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DNA deletion.
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| McDonald DG, McMenamin JB, Farrell MA, Droogan O, Green AJ.
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| Am J Med Genet 111(2):191-4. 2002
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| 3 | KSS
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| Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion.
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| Becher MW, et al.
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| Hum Pathol 30(5):577-81. 1999
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| 4 | KSS
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| A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome.
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| Lertrit P, et al.
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| Hum Genet 105(1-2):127-31. 1999
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| 5 | KSS
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| Mitochondrial encephalomyopathy and hypoparathyrodism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid.
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| Tengan CH, Kiyomoto BH, Rocha MS, Tavares VL, Gabbai AA, Moraes CT.
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| J Clin Endocrinol Metab 83(1):125-9. 1998
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| 6 | KSS
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| 3.1-kb deletion of mitochondrial DNA in a patient with Kearns-Sayre syndrome.
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| Klopstock T, et al.
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| Acta Neuropathol 90 : 126-129. 1995
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| 7 | KSS
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| Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence.
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| Remes AM, et al.
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| Genomics 16 : 256-258. 1993
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| 8 | KSS
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| Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome.
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| Ota Y, et al.
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| Invest Ophthalmol Vis Sci 32 : 2667-2675. 1991
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| 9 | KSS
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| Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.
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| Cormier V, et al.
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| Am J Hum Genet 48 : 643-648. 1991
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| 10 | KSS
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| Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis.
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| Nakase H, et al.
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| Am J Hum Genet 46 : 418-427. 1990
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| 11 | MEM, KSS
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| Duplications of mitochondrial DNA in mitochondrial myopathy.
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| Poulton J, et al.
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| Lancet I : 236-240. 1989
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| 12 | KSS
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| Mitochondrial DNA deletions in Kearns-Sayre syndrome can be associated with direct repeats.
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| Wallace DC, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1101-1102. 1989
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| 13 | KSS
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| A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.
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| Schon EA, et al.
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| Science 244 : 346-349. 1989
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| 14 | KSS
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| Kearns-Sayre syndrome with muscle mitochondrial DNA deletion.
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| Lestienne P, et al.
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| Lancet I : 885. 1988
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| 15 | KSS
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| Deletions of mitochondrial DNA in Kearns-Sayre syndrome.
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| Zeviani M, et al.
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| Neurology 38 : 1339-1346. 1988
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