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Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family

A. Gutiérrez, A. Saldaña-Martínez, R. García-Ramírez, D. Rayo-Mares, M. Carreras, M.J. López-Pérez, E. Ruiz-Pesini, J. Montoya, J.F. Montiel-Sosa [REV NEUROL 2009;49:248-250] PMID: 19714555 DOI: https://doi.org/10.33588/rn.4905.2009282

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Volumen 49 | Number 05 | Nº of views of the article 12.726 | Nº of PDF downloads 715 | Article publication date 01/09/2009

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ABSTRACT

INTRODUCTION Leigh syndrome is a neurodegenerative and progressive disease that appears usually in childhood due to defects in nuclear or mitochondrial genome. The mutation G14459A in mitochondrial DNA has been associated previously to Leber hereditary optic neuropathy and recently to Leigh syndrome.

CASE REPORT A 10 months-old Mexican girl diagnosed of Leigh syndrome. Molecular-genetic studies detected the mutation G14459A in a percentage close to homoplasmy and in low heteroplasmy in her mother. The rest of the maternally related family members analyzed were negative. CONCLUSION. The G14459A mutation, although not very frequently associated to Leigh syndrome, should be analyzed in patients that do not present the most common point mutations. KeywordsG14459A mutation Haplogroup Leigh syndrome Mitochondrial diseases Mitochondrial DNA mtDNA

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Nota Clínica

Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family

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