Publications by authors named "Lambert P van Heuvel"

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.
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