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

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Standard

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. / Østergaard, Elsebet; Schwartz, Marianne; Batbayli, Mustafa; Christensen, Ernst; Hjalmarson, Ola; Kollberg, Gittan; Holme, Elisabeth.

I: European Journal of Pediatrics, Bind 169, Nr. 2, 01.02.2010, s. 201-5.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Østergaard, E, Schwartz, M, Batbayli, M, Christensen, E, Hjalmarson, O, Kollberg, G & Holme, E 2010, 'A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria', European Journal of Pediatrics, bind 169, nr. 2, s. 201-5. https://doi.org/10.1007/s00431-009-1007-z

APA

Østergaard, E., Schwartz, M., Batbayli, M., Christensen, E., Hjalmarson, O., Kollberg, G., & Holme, E. (2010). A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. European Journal of Pediatrics, 169(2), 201-5. https://doi.org/10.1007/s00431-009-1007-z

Vancouver

Østergaard E, Schwartz M, Batbayli M, Christensen E, Hjalmarson O, Kollberg G o.a. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. European Journal of Pediatrics. 2010 feb. 1;169(2):201-5. https://doi.org/10.1007/s00431-009-1007-z

Author

Østergaard, Elsebet ; Schwartz, Marianne ; Batbayli, Mustafa ; Christensen, Ernst ; Hjalmarson, Ola ; Kollberg, Gittan ; Holme, Elisabeth. / A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. I: European Journal of Pediatrics. 2010 ; Bind 169, Nr. 2. s. 201-5.

Bibtex

@article{120cb96c59ca4afdb7b07e332b193875,
title = "A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria",
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.",
author = "Elsebet {\O}stergaard and Marianne Schwartz and Mustafa Batbayli and Ernst Christensen and Ola Hjalmarson and Gittan Kollberg and Elisabeth Holme",
year = "2010",
month = feb,
day = "1",
doi = "http://dx.doi.org/10.1007/s00431-009-1007-z",
language = "English",
volume = "169",
pages = "201--5",
journal = "Acta Paediatrica Hungarica",
issn = "0340-6199",
publisher = "Springer",
number = "2",

}

RIS

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 - http://dx.doi.org/10.1007/s00431-009-1007-z

DO - http://dx.doi.org/10.1007/s00431-009-1007-z

M3 - Journal article

VL - 169

SP - 201

EP - 205

JO - Acta Paediatrica Hungarica

JF - Acta Paediatrica Hungarica

SN - 0340-6199

IS - 2

ER -

ID: 34110210