A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
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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.
Originalsprog | Engelsk |
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Tidsskrift | European Journal of Pediatrics |
Vol/bind | 169 |
Udgave nummer | 2 |
Sider (fra-til) | 201-5 |
Antal sider | 5 |
ISSN | 0340-6199 |
DOI | |
Status | Udgivet - 1 feb. 2010 |
ID: 34110210