Publications by authors named "Lambert P van Heuvel"
Mol Genet Metab
January 2007
Article Synopsis
- A novel mitochondrial mutation (T4681C) linked to Leigh Syndrome was identified, showing a specific defect in complex I activity in the patient's cells.
- Biochemical studies confirmed that this mutation affects mitochondrial function, as evidenced by the consistent complex I deficiency in various tissue samples.
- The mutation causes a significant amino acid change (L71P) that disrupts the assembly of complex I, indicating a potential mechanism for the disease's progression.
