A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic...
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
Subjects
More information
Scope and Contents
Contents
Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in
SUCLA2
, the gene encoding a β subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in
SUCLG1
, encoding the α subunit of the enzyme, have been reported in only one family, where a homozygous 2 bp...
Alternative Titles
Full title
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_gup_ub_gu_se_104266
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_gup_ub_gu_se_104266
Other Identifiers
ISSN
0340-6199,1432-1076
E-ISSN
1432-1076
DOI
10.1007/s00431-009-1007-z
