Ann Neurol. 2000 Jul;48(1):102-4.

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.

Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR.

Source

Murdoch Institute, Royal Children's Hospital, Melbourne, Australia.

Abstract

Leigh disease can be caused by defects of both nuclear and mitochondrially encoded genes. One mitochondrial DNA mutation, G14459A, has been associated with both respiratory chain complex I deficiency and Leber's hereditary optic neuropathy, with or without dystonia. Here, we report the occurrence of this mutation in 3 complex I-deficient patients from 2 separate pedigrees who presented with Leigh disease, with no evidence or family history of Leber's hereditary optic neuropathy or dystonia.

PMID:: 10894222; [PubMed - indexed for MEDLINE]

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Related citations in PubMed

[Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family]. [Rev Neurol. 2009]
[Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family].
Gutiérrez A, Saldaña-Martínez A, García-Ramírez R, Rayo-Mares D, Carreras M, López-Pérez MJ, Ruiz-Pesini E, Montoya J, Montiel-Sosa JF. Rev Neurol. 2009 Sep 1-15; 49(5):248-50.
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Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation.
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Review [Complex I (NADH-ubiquinone oxidoreductase) deficiency]. [Ryoikibetsu Shokogun Shirizu. ...]
Review [Complex I (NADH-ubiquinone oxidoreductase) deficiency].
Nonaka I. Ryoikibetsu Shokogun Shirizu. 2001; (36):129-31.
Review [LHON (Leber's hereditary optic neuropathy)]. [Nihon Rinsho. 2002]
Review [LHON (Leber's hereditary optic neuropathy)].
Mashima Y. Nihon Rinsho. 2002 Apr; 60 Suppl 4:282-6.

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Cited by 5 PubMed Central articles

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. [PLoS One. 2012]
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.
Achilli A, Iommarini L, Olivieri A, Pala M, Hooshiar Kashani B, Reynier P, La Morgia C, Valentino ML, Liguori R, Pizza F, et al. PLoS One. 2012; 7(8):e42242. Epub 2012 Aug 3.
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report. [BMC Neurol. 2011]
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.
Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, et al. BMC Neurol. 2011 Jul 12; 11:85. Epub 2011 Jul 12.
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. [Eur J Hum Genet. 2011]
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, et al. Eur J Hum Genet. 2011 Jul; 19(7):769-75. Epub 2011 Mar 2.

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