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Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene

(1995) PEDIATRIC NEUROLOGY. 13(3). p.242-246
Author
Organization
Abstract
A 2.5-year-old boy with bilateral striatal lesions is reported. Using polymerase chain reaction-single-strand conformation polymorphism analysis and direct DNA sequencing, a novel point mutation (T to C) at nucleotide 8851 of the mitochondrial DNA (mtDNA) was identified, This mutation changes a highly conserved tryptophan to arginine in subunit 6 of the mtATPase gene, The mutation was nearly homoplasmic and maternally inherited, This is the first published report of a mutation in the mtDNA in bilateral striatal degeneration, It is possible that other cases of bilateral striatal degeneration have been caused by mutations in the mtATPase 6 gene or genes encoding other subunits of the mtATPase; and therefore the mtATPase genes should be examined in children with this condition.
Keywords
LEIGH SYNDROME, DNA, DISEASE, ORGANIZATION, DEFICIENCY, SEQUENCE, LESIONS

Citation

Please use this url to cite or link to this publication:

MLA
De Meirleir, L et al. “Bilateral Striatal Necrosis with a Novel Point Mutation in the Mitochondrial ATPase 6 Gene.” PEDIATRIC NEUROLOGY 13.3 (1995): 242–246. Print.
APA
De Meirleir, L., Seneca, S., Lissens, W., Schoentjes, E., & Desprechins, B. (1995). Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. PEDIATRIC NEUROLOGY, 13(3), 242–246.
Chicago author-date
De Meirleir, L, S Seneca, W Lissens, Eric Schoentjes, and B Desprechins. 1995. “Bilateral Striatal Necrosis with a Novel Point Mutation in the Mitochondrial ATPase 6 Gene.” Pediatric Neurology 13 (3): 242–246.
Chicago author-date (all authors)
De Meirleir, L, S Seneca, W Lissens, Eric Schoentjes, and B Desprechins. 1995. “Bilateral Striatal Necrosis with a Novel Point Mutation in the Mitochondrial ATPase 6 Gene.” Pediatric Neurology 13 (3): 242–246.
Vancouver
1.
De Meirleir L, Seneca S, Lissens W, Schoentjes E, Desprechins B. Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. PEDIATRIC NEUROLOGY. 1995;13(3):242–6.
IEEE
[1]
L. De Meirleir, S. Seneca, W. Lissens, E. Schoentjes, and B. Desprechins, “Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene,” PEDIATRIC NEUROLOGY, vol. 13, no. 3, pp. 242–246, 1995.
@article{8579815,
  abstract     = {A 2.5-year-old boy with bilateral striatal lesions is reported. Using polymerase chain reaction-single-strand conformation polymorphism analysis and direct DNA sequencing, a novel point mutation (T to C) at nucleotide 8851 of the mitochondrial DNA (mtDNA) was identified, This mutation changes a highly conserved tryptophan to arginine in subunit 6 of the mtATPase gene, The mutation was nearly homoplasmic and maternally inherited, This is the first published report of a mutation in the mtDNA in bilateral striatal degeneration, It is possible that other cases of bilateral striatal degeneration have been caused by mutations in the mtATPase 6 gene or genes encoding other subunits of the mtATPase; and therefore the mtATPase genes should be examined in children with this condition.},
  author       = {De Meirleir, L and Seneca, S and Lissens, W and Schoentjes, Eric and Desprechins, B},
  issn         = {0887-8994},
  journal      = {PEDIATRIC NEUROLOGY},
  keywords     = {LEIGH SYNDROME,DNA,DISEASE,ORGANIZATION,DEFICIENCY,SEQUENCE,LESIONS},
  language     = {eng},
  number       = {3},
  pages        = {242--246},
  title        = {Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene},
  url          = {http://dx.doi.org/10.1016/0887-8994(95)00184-h},
  volume       = {13},
  year         = {1995},
}

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