Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia-Reference-Cited by-同舟云学术

Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia

Published:2014 Issue: Volume: Page:95-100
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Brecht Marcus,Richardson Malcolm,Taranath Ajay,Grist Scott,Thorburn David,Bratkovic Drago

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2014_375

Reference17 articles.

1. Brautbar A, Wang J, Abdenur JE et al (2008) The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. Mol Genet Metab 94(4):485–490

2. Chol M, Lebon S, Bénit P et al (2003) 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. J Med Genet 40:188–191

3. Kent AL, Kecskes Z, Shadbolt B, Falk MC (2007) Blood pressure in the first year of life in healthy infants born at term. Pediatr Nephrol 22(10):1743–1749

4. Lohmeier K, Distelmaier F, van den Heuvel LP et al (2007) Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency. Neuropediatrics 38:148–150

5. Monlleo-Neila L, Toro MD, Bornstein B, Garcia-Arumi E, Sarrias A, Roig-Quilis M, Munell F (2013) Leigh syndrome and the mitochondrial m.13513G>A mutation: expanding the clinical spectrum. J Child Neurol 28(11):1531–1534

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