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Pediatrics & Neonatology
Volume 49, Issue 4
, Pages 145-149
, August 2008
Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy
References
- . Mitochondrial cytopathies . J Neurol . 2003;250:267–277
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The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency
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- Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS . Biochem Biophys Res Commun . 1997;238:326–328
- Clinical and molecular findings in children with complex I deficiency . Biochim Biophys Acta . 2004;1659:136–147
- Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease . Ann Neurol . 2003;54:473–478
- The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White . Eur J Hum Genet . 2007;15:155–161
- . Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan . J Hum Genet . 2004;49:92–96
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Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. J Med Genet 2007;44:e74. 9. Cardol P, Boutaffala L, Memmi S, Devreese B, Matagne RF, Remacle C. In Chlamydomonas, the loss of ND5 subunit prevents the assembly of whole mitochondrial complex I and leads to the formation of a low abundant 700 kDa subcomplex
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Biochim Biophys Acta
. 2008;1777:388–396
- . Understanding the impact of mitochondrial defects in cardiovascular disease: a review . J Card Fail . 2002;8:347–361
- . High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy . Clin Genet . 1996;50:535–537
- . Pre-excitation syndrome in Leber's hereditary optic neuropathy . Lancet . 1994;344:857–858
- . Wolff-Parkinson-White syndrome in patients with MELAS . Arch Neurol . 2007;64:1625–1627
- . The Wolff-Parkinson-White syndrome: the cellular substrate for conduction in the accessory atrioventricular pathway . Eur Heart J . 1994;15:981–987
- Identification of a gene responsible for familial Wolff-Parkinson-White syndrome . N Engl J Med . 2001;344:1823–1831
- . The AMP-activated protein kinasefuel gauge of the mammalian cell? . Eur J Biochem . 1997;246:259–273
- . Cardiac manifestations in oxidative phosphorylation disorders of childhood . J Pediatr . 2007;150:407–411
- A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy . Hum Mutat . 1994;3:37–43
- Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease . Pediatrics . 2004;114:925–931
- . Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome . Ophthalmology . 2000;107:1397–1402
- Mitochondrial optic neuropathies: how two genomes may kill the same cell type? . Biosci Rep . 2007;27:173–184
PII: S1875-9572(08)60030-3
doi: 10.1016/S1875-9572(08)60030-3
© 2008 Taiwan Pediatric Association. Published by Elsevier Inc. All rights reserved.
« Previous
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Pediatrics & Neonatology
Volume 49, Issue 4
, Pages 145-149
, August 2008
