TY - JOUR
T1 - A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
AU - Østergaard, Elsebet
AU - Schwartz, Marianne
AU - Batbayli, Mustafa
AU - Christensen, Ernst
AU - Hjalmarson, Ola
AU - Kollberg, Gittan
AU - Holme, Elisabeth
PY - 2010/2/1
Y1 - 2010/2/1
N2 - Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the alpha subunit of the enzyme, have been reported in only one family, where a homozygous 2 bp deletion was associated with fatal infantile lactic acidosis. We here report a patient with a novel homozygous missense mutation in SUCLG1, whose phenotype is similar to that of patients with SUCLA2 mutations.
AB - Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the alpha subunit of the enzyme, have been reported in only one family, where a homozygous 2 bp deletion was associated with fatal infantile lactic acidosis. We here report a patient with a novel homozygous missense mutation in SUCLG1, whose phenotype is similar to that of patients with SUCLA2 mutations.
U2 - 10.1007/s00431-009-1007-z
DO - 10.1007/s00431-009-1007-z
M3 - Journal article
C2 - 19526370
SN - 0340-6199
VL - 169
SP - 201
EP - 205
JO - European Journal of Pediatrics
JF - European Journal of Pediatrics
IS - 2
ER -