TY - JOUR
T1 - The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein
AU - Rouzier, C
AU - Le Guédard-Méreuze, S
AU - Fragaki, K
AU - Serre, V
AU - Miro, J
AU - Tuffery-Giraud, S
AU - Chaussenot, A
AU - Bannwarth, S
AU - Caruba, C
AU - Østergaard, Elsebet
AU - Pellissier, J-F
AU - Richelme, C
AU - Espil, C
AU - Chabrol, B
AU - Paquis-Flucklinger, V
PY - 2010/10/1
Y1 - 2010/10/1
N2 - Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the enzyme, have been described in two pedigrees only.
AB - Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the enzyme, have been described in two pedigrees only.
U2 - 10.1136/jmg.2009.073445
DO - 10.1136/jmg.2009.073445
M3 - Journal article
C2 - 20693550
SN - 0022-2593
VL - 47
SP - 670
EP - 676
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
IS - 10
ER -