A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

Elsebet Østergaard, Marianne Schwartz, Mustafa Batbayli, Ernst Christensen, Ola Hjalmarson, Gittan Kollberg, Elisabeth Holme

48 Citationer (Scopus)

Abstract

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.
OriginalsprogEngelsk
TidsskriftEuropean Journal of Pediatrics
Vol/bind169
Udgave nummer2
Sider (fra-til)201-5
Antal sider5
ISSN0340-6199
DOI
StatusUdgivet - 1 feb. 2010

Fingeraftryk

Dyk ned i forskningsemnerne om 'A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria'. Sammen danner de et unikt fingeraftryk.

Citationsformater