1,565
Views
14
CrossRef citations to date
0
Altmetric
Case Reports

BCS1L gene mutation causing GRACILE syndrome: case report

, , , &
Pages 953-954 | Received 18 Dec 2013, Accepted 21 Feb 2014, Published online: 24 Mar 2014

References

  • Al-Owain M, Colak D, Albakheet A, et al. Clinical and biochemical features associated with BCS1L mutation. J Inherit Metab Dis. 2013;36(5):813–820
  • Fellman V. GRACILE syndrome – a severe neonatal mitochondrial disorder. Duodecim. 2012;128(15):1560–1567
  • Lynn AM, King RI, Mackay RJ, et al. BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency. Ann Clin Biochem. 2012;49(Pt 2):201–203
  • Fellman V, Kotarsky H. Mitochondrial hepatopathies in the newborn period. Semin Fetal Neonatal Med. 2011;16(4):222–228
  • de Lonlay P, Valnot I, Barrientos A, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nature Genet. 2001;29:57–60
  • Smet J, De Paepe B, Seneca S, et al. Complex III staining in blue native polyacrylamide gels. J Inherit Metab Dis. 2011;34(3):741–747
  • Kotarsky H, Karikoski R, Mörgelin M, et al. Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion. 2010;10(5):497–509
  • Fellman V. The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. Blood Cells Mol Dis. 2002;29(3):444–450
  • Visapää I, Fellman V, Vesa J, et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet. 2002;71(4):863–876

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.