Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correl...
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
About this item
Full title
Author / Creator
Carrozzo, Rosalba , Verrigni, Daniela , Rasmussen, Magnhild , de Coo, Rene , Amartino, Hernan , Bianchi, Marzia , Buhas, Daniela , Mesli, Samir , Naess, Karin , Born, Alfred Peter , Woldseth, Berit , Prontera, Paolo , Batbayli, Mustafa , Ravn, Kirstine , Joensen, Fróði , Cordelli, Duccio M. , Santorelli, Filippo Maria , Tulinius, Mar , Darin, Niklas , Duno, Morten , Jouvencel, Philippe , Burlina, Alberto , Stangoni, Gabriela , Bertini, Enrico , Redonnet-Vernhet, Isabelle , Wibrand, Flemming , Dionisi-Vici, Carlo , Uusimaa, Johanna , Vieira, Paivi , Osorio, Andrés Nascimento , McFarland, Robert , Taylor, Robert W. , Holme, Elisabeth and Ostergaard, Elsebet
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
Background
The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by mutations in
SUCLA2
or
SUCLG1
. We report here 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported...
Alternative Titles
Full title
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
Authors, Artists and Contributors
Author / Creator
Verrigni, Daniela
Rasmussen, Magnhild
de Coo, Rene
Amartino, Hernan
Bianchi, Marzia
Buhas, Daniela
Mesli, Samir
Naess, Karin
Born, Alfred Peter
Woldseth, Berit
Prontera, Paolo
Batbayli, Mustafa
Ravn, Kirstine
Joensen, Fróði
Cordelli, Duccio M.
Santorelli, Filippo Maria
Tulinius, Mar
Darin, Niklas
Duno, Morten
Jouvencel, Philippe
Burlina, Alberto
Stangoni, Gabriela
Bertini, Enrico
Redonnet-Vernhet, Isabelle
Wibrand, Flemming
Dionisi-Vici, Carlo
Uusimaa, Johanna
Vieira, Paivi
Osorio, Andrés Nascimento
McFarland, Robert
Taylor, Robert W.
Holme, Elisabeth
Ostergaard, Elsebet
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_509963
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_509963
Other Identifiers
ISSN
0141-8955,1573-2665
E-ISSN
1573-2665
DOI
10.1007/s10545-015-9894-9
