Abstract | INTRODUCTION: 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.
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Authors | 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 |
Journal | Revista de neurologia
(Rev Neurol)
2009 Sep 1-15
Vol. 49
Issue 5
Pg. 248-50
ISSN: 1576-6578 [Electronic] Spain |
Vernacular Title | Síndrome de Leigh causado por la mutación G14459A del ADN mitocondrial en una familia mexicana. |
PMID | 19714555
(Publication Type: Case Reports, English Abstract, Journal Article)
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Chemical References |
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Topics |
- DNA, Mitochondrial
(genetics)
- Female
- Humans
- Infant
- Leigh Disease
(genetics)
- Mexico
- Mutation
- Pedigree
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