Projects per year
Apart from those 20 patients, the only alteration detected in one girl with clear PDHc and PDH-E1 deficiency was the silent change c.396A> C (p.R132R), and other eight PDHc deficient patients carry combinations of known infrequent polymorphisms that are overrepresented among our 20 unsolved patients. The importance of these changes on PDH activity is unclear.
Investigations in the other PDHc genes are in course in order to elucidate the genetic defect in the unresolved patients.
|Number of pages||9|
|Publication status||Published - 2010|
- PDH activity
- PDHA1 gene
- PDHc deficiency
- PDHA1 mutations
Seneca, S., Lissens, W., De Meirleir, L. & De Meirleir, L.
1/01/03 → 31/12/06
OZR649: Molecular-biochemical study of pyruvate dehydrogenase complex deficiency and defects in the mitochondrial genome.
Lissens, W., De Meirleir, L., Seneca, S. & De Meirleir, L.
1/01/97 → 31/12/99