Literature DB >> 8644724

Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation.

I F de Coo, H J Smeets, F J Gabreëls, N Arts, B A van Oost.   

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Year:  1996        PMID： 8644724      PMCID： PMC1914555     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  13 in total

1.  Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

Authors:  M Yoneda; A Chomyn; A Martinuzzi; O Hurko; G Attardi
Journal:  Proc Natl Acad Sci U S A       Date:  1992-12-01       Impact factor: 11.205

2.  A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Authors:  I J Holt; A E Harding; R K Petty; J A Morgan-Hughes
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

3.  Replacement of bovine mitochondrial DNA by a sequence variant within one generation.

Authors:  C M Koehler; G L Lindberg; D R Brown; D C Beitz; A E Freeman; J E Mayfield; A M Myers
Journal:  Genetics       Date:  1991-09       Impact factor: 4.562

4.  A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

Authors:  D D de Vries; B G van Engelen; F J Gabreëls; W Ruitenbeek; B A van Oost
Journal:  Ann Neurol       Date:  1993-09       Impact factor: 10.422

5.  Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Authors:  Y Tatuch; J Christodoulou; A Feigenbaum; J T Clarke; J Wherret; C Smith; N Rudd; R Petrova-Benedict; B H Robinson
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

6.  Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers.

Authors:  A Chomyn; S T Lai; R Shakeley; N Bresolin; G Scarlato; G Attardi
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

7.  The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families.

Authors:  Y Tatuch; R A Pagon; B Vlcek; R Roberts; M Korson; B H Robinson
Journal:  Eur J Hum Genet       Date:  1994       Impact factor: 4.246

8.  Rearranged mitochondrial genomes are present in human oocytes.

Authors:  X Chen; R Prosser; S Simonetti; J Sadlock; G Jagiello; E A Schon
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025

9.  Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.

Authors:  C Mariotti; V Tiranti; F Carrara; B Dallapiccola; S DiDonato; M Zeviani
Journal:  J Clin Invest       Date:  1994-03       Impact factor: 14.808

10.  Rapid segregation of heteroplasmic bovine mitochondria.

Authors:  M V Ashley; P J Laipis; W W Hauswirth
Journal:  Nucleic Acids Res       Date:  1989-09-25       Impact factor: 16.971
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  6 in total

1.  Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

Authors:  S L White; V R Collins; R Wolfe; M A Cleary; S Shanske; S DiMauro; H H Dahl; D R Thorburn
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

2.  Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

Authors:  S L White; S Shanske; J J McGill; H Mountain; M T Geraghty; S DiMauro; H H Dahl; D R Thorburn
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

3.  Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.

Authors:  R B Blok; D A Gook; D R Thorburn; H H Dahl
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

Review 4.  Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions.

Authors:  Margherita Protasoni; Massimo Zeviani
Journal:  Int J Mol Sci       Date:  2021-01-08       Impact factor: 5.923

5.  Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

Authors:  M Gerards; W Sluiter; B J C van den Bosch; L E A de Wit; C M H Calis; M Frentzen; H Akbari; K Schoonderwoerd; H R Scholte; R J Jongbloed; A T M Hendrickx; I F M de Coo; H J M Smeets
Journal:  J Med Genet       Date:  2009-06-18       Impact factor: 6.318

6.  De novo mtDNA point mutations are common and have a low recurrence risk.

Authors:  Suzanne C E H Sallevelt; Christine E M de Die-Smulders; Alexandra T M Hendrickx; Debby M E I Hellebrekers; Irenaeus F M de Coo; Charlotte L Alston; Charlotte Knowles; Robert W Taylor; Robert McFarland; Hubert J M Smeets
Journal:  J Med Genet       Date:  2016-07-22       Impact factor: 6.318
  6 in total

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