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

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

Marie Chol · Journal of Medical Genetics · 2003 · 154 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +17

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.

Sara Shanske, Jorida Çoku, Jiesheng Lu et al. · PubMed · 2008 · 125 citations

Life Sciences, Genetics, Molecular Genetics +14

Blood pressure in the first year of life in healthy infants born at term

Alison L. Kent, Zsuzsoka Kecskés, Bruce Shadbolt et al. · Pediatric Nephrology · 2007 · 100 citations

Medicine, Child Health, Pediatrics +16

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

Akira Sudo, Shiho Honzawa, Ikuya Nonaka et al. · Journal of Human Genetics · 2004 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White

E. Mariken Ruiter, Marloes H. Siers, Christa van den Elzen et al. · European Journal of Human Genetics · 2006 · 64 citations

Life Sciences, Genetics, Molecular Genetics +14