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. 2003 Mar;40(3):188–191. doi: 10.1136/jmg.40.3.188
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
M Chol
1, S Lebon
1, P Benit
1, D Chretien
1, P de Lonlay
1, A Goldenberg
1, S Odent
1, L Hertz-Pannier
1, C Vincent-Delorme
1, V Cormier-Daire
1, P Rustin
1, A Rotig
1, A Munnich
1
M Chol
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
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S Lebon
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
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P Benit
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
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D Chretien
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
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P de Lonlay
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
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A Goldenberg
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
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S Odent
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
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L Hertz-Pannier
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
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C Vincent-Delorme
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
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V Cormier-Daire
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
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P Rustin
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
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A Rotig
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
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A Munnich
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
Find articles by A Munnich
1INSERM U393 and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
PMCID: PMC1735406 PMID: 12624137