PDH E 1 β deficiency with novel mutations in two patients with Leigh syndrome

1. Quintana, E.
2. Mayr, J.A.
3. García Silva, M.T.
4. Font, A.
5. Tortoledo, M.A.
6. Moliner, S.
7. Ozaez, L.
8. Lluch, M.
9. Cabello, A.
10. Ricoy, J.R.
11. Koch, J.
12. Ribes, A.
13. Sperl, W.
14. Briones, P.