| Autor: |
Kirby, D. M., McFarland, R., Ohtake, A., Dunning, C., Ryan, M. T., Wilson, C., Ketteridge, D., Tumbull, D. M., Thorburn, D. R., Taylor, R. W. |
| Předmět: |
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| Zdroj: |
Journal of Medical Genetics; Oct2004, Vol. 41 Issue 10, p784-789, 6p |
| Abstrakt: |
The article focuses on mutations in mitochondrial DNA (mtDNA) and its clinical manifestations like mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and a biochemical deficiency of respiratory chain complex 1. It presents a report on three unrelated patients with MELAS in whom 3243A↠G mutation could not be detected, but who expressed a specific deficiency of complex 1 activity in both skeletal muscle and cultured fibroblasts. The findings suggest the importance of mtDNA mutations in aetiology of childhood respiratiory chain complex1 deficiency and underlines the importance of a cohesive diagnostic strategy where molecular genetic investigations are shaped by the biochemical and histological findings. |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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