Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature review-Reference-Cited by-同舟云学术

Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature review

Published:2015-04-21 Issue:6 Volume:167 Page:1330-1336
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mordaunt Dylan A.¹²,Jolley Alexandra¹,Balasubramaniam Shanti¹³⁴,Thorburn David R.⁵⁶,Mountford Hayley S.⁵⁶,Compton Alison G.⁵⁶,Nicholl Jillian¹,Manton Nicholas¹,Clark Damian⁷,Bratkovic Drago¹,Friend Kathryn¹²,Yu Sui¹

Affiliation:

1. SA Pathology; Women's and Children's Hospital; North Adelaide Australia

2. Department of Paediatrics; University of Adelaide; North Adelaide Australia

3. Metabolic Unit; Princess Margaret Hospital for Children; Subiaco Australia

4. School of Paediatrics and Child Health; The University of Western Australia; Perth Australia

5. Murdoch Childrens Research Institute and Victorian Clinical Genetics Service; The Royal Children's Hospital; Parkville Australia

6. Department of Paediatrics; University of Melbourne; Melbourne Australia

7. Department of Neurology; Women's and Children's Hospital; North Adelaide Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36968/fullpdf

Reference14 articles.

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2. The mitochondrial genome and psychiatric illness;Anglin;Am J Med Genet B Neuropsychiatr Genet,2012

3. Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome;Atwal;JIMD Rep,2014

4. 21. Mitochondrial complex III deficiency associated with a homozygoous mutation in TTC19;Balasubramaniam;Twin Res Hum Genet,2012

5. Respiratory-chain diseases related to complex III deficiency;Benit;Biochim Biophys Acta,2009

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