Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy.
Briones
P
P
Institut de Bioquímica Clínica, Cerdanyola, Spain.
López
M J
MJ
De Meirleir
L
L
Ribes
A
A
Rodés
M
M
Martinez-Costa
C
C
Peris
M
M
Lissens
W
W
D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000209:etiology*; D008297:Male; D017354:Point Mutation; D030481:Pyruvate Dehydrogenase (Lipoamide); D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications*
D011768:Pyruvate Dehydrogenase Complex; D030481:Pyruvate Dehydrogenase (Lipoamide)