| Autor: |
Liolitsa, Danae, Rahman, Shamina, Benton, Sarah, Carr, Lucinda J., Hanna, Michael G. |
| Zdroj: |
Annals of Neurology; January 2003, Vol. 53 Issue: 1 p128-132, 5p |
| Abstrakt: |
We identified two novel heteroplasmic mitochondrial DNA point mutations in the gene encoding the ND5 subunit of complex I: a 12770A→G transition identified in a patient with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes) and a 13045A→C transversion in a patient with a MELAS/Leber's hereditary optic neuropathy/Leigh's overlap syndrome. Biochemical analysis of muscle homogenates showed normal or very mildly reduced complex I activity. Histochemistry was normal. Our observations add to the evidence that mitochondrial ND5 protein coding gene mutations frequently associate with the MELAS phenotype, and it highlights the role of complex I dysfunction in MELAS. Ann Neurol 2003 |
| Databáze: |
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