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Last updated: 26-Jun-98
REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers
Degoul ; F ; 5814 ; A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues. ; J Inherit Metab Dis ; 1997 ; 20(1) ; 49-53
Ferlin ; T ; 5846 ; Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. ; J Pediatr ; 1997 ; 131(3) ; 447-9
Fryer ; A ; 491* ; Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'. ; Archives of Disease in Childhood ; 1994 ; 71(5) ; 419-22
Graeber ; MB ; 5886 ; Recent developments in the molecular genetics of mitochondrial disorders. ; J Neurol Sci ; 1998 ; 153(2) ; 251-63
Haas ; RH ; 857* ; Oxidative metabolism in Rett syndrome: 2. Biochemical and molecular studies. ; Neuropediatrics ; 1995 ; 26(2) ; 95-9
Harding ; AE ; 452* ; Prenatal diagnosis of mitochondrial DNA8993T---G disease ; Am J Hum Genet ; 1992 ; 50 ; 629-33
Holt ; I.J. ; 25* ; A New Mitochondrial Disease Associated with Mitochondrial DNA Heteroplasmy ; American Journal of Human Genetics ; 1990 ; 46 ; 428-433
Houstek ; J ; 883* ; Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA. ; Biochimica et Biophysica Acta ; 1995 ; 1271(2-3) ; 349-57
Klement ; P ; 912* ; Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic acidosis. ; Journal of Inherited Metabolic Disease ; 1994 ; 17(2) ; 249-50
Lodi ; R ; 862* ; Brain and muscle energy metabolism studied in vivo by 31P-magnetic resonance spectroscopy in NARP syndrome. ; Journal of Neurology, Neurosurgery & Psychiatry ; 1994 ; 57(12) ; 1492-6
Majander ; A ; 6038 ; Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases. ; FEBS Lett ; 1997 ; 412(2) ; 351-4
Mak ; SC ; 6039 ; Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers. ; Pediatr Neurol ; 1996 ; 15(1) ; 72-5
Makela-Bengs ; P ; 859* ; Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. ; Pediatric Research ; 1995 ; 37(5) ; 634-9
Ortiz ; RG ; 460* ; Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation. ; Archives of Ophthalmology ; 1993 ; 111(11) ; 1525-30
Pastores ; GM ; 461* ; Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). ; American Journal of Medical Genetics ; 1994 ; 50(3) ; 265-71
Robinson ; B.H. ; 304* ; Four families with variable presentation of the 8993 mtDNA mutation within the ATPase 6 gene ; Am J Hum Genet ; 1992 ; 51 ; A175
Santorelli ; FM ; 4025 ; Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. ; Pediatr Res ; 1996 ; 39(5) ; 914-917
Santorelli ; FM ; 351* ; A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. ; Neurology ; 1994 ; 44(5) ; 972-4
Santorelli ; FM ; 6206 ; Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. ; Neurology ; 1997 ; 49(1) ; 270-3
Santorelli ; FM ; 352* ; The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. ; Annals of Neurology ; 1993 ; 34(6) ; 827-34
Seller ; A ; 6225 ; Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA. ; J Inherit Metab Dis ; 1997 ; 20(1) ; 102-3
Sembrano ; E ; 6226 ; Polysomnographic findings in a patient with the mitochondrial encephalomyopathy NARP. ; Neurology ; 1997 ; 49(6) ; 1714-7
Seneca ; S ; 858* ; Importance of sequence analysis in NARP syndrome. ; J Inherit Metab Dis ; 1995 ; 18(1) ; 97-8
Takahashi ; S ; 6296 ; De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome [letter] ; Am J Hum Genet ; 1998 ; 62(3) ; 717-9
Tatuch ; Y ; 467 ; The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families. ; European Journal of Human Genetics ; 1994 ; 2(1) ; 35-43
Tatuch ; Yurly ; 275* ; The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. ; Biochemical & Biophysical Research Communications ; 1993 ; 192(1) ; 124-8
Tatuch ; Y. ; 36* ; Heteroplasmic mtDNA Mutation (T->G) at 8993 Can Cause Leigh Disease When the Percentage of Abnormal mtDNA is High ; American Journal of Human Genetics ; 1992 ; 50(4) ; 852-8
Trounce ; I ; 1167* ; Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. ; Proc Natl Acad Sci USA ; 1994 ; 91(18) ; 8334-8
Trounce ; I ; 307* ; Cytoplasmic transfer of the mitochondrial DNA 8993T->G (ATP6) point mutation associated with Leigh's disease into mtDNA-less cells shows co_segregation of ATPsynthase defect. ; ; 1993 ; ;
Tulinius ; MH ; 2411* ; De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring. ; Human Genetics ; 1995 ; 96(3) ; 290-4
Uziel ; G ; 6337 ; Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. ; J Neurol Neurosurg Psychiatry ; 1997 ; 63(1) ; 16-22
Willner ; J ; 305* ; Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G) ; Am J Hum Genet ; 1992 ; 51 ; A110
Woods ; G ; 860* ; Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition. ; Journal of Medical Genetics ; 1995 ; 32(3) ; 191-6
Yoshinaga ; H ; 363* ; A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome. ; Journal of Child Neurology ; 1993 ; 8(2) ; 129-33