Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria-Reference-Cited by-同舟云学术

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria

Published:2014 Issue: Volume: Page:111-115
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Prasun Pankaj,Young Sarah,Salomons Gajja,Werneke Andrea,Jiang Yong-hui,Struys Eduard,Paige Mikell,Avantaggiati Maria Laura,McDonald Marie

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2014_378

Reference21 articles.

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2. Chaouch A, Porcellli V, Cox D et al (2014) Mutations in the mitochondrial citrate carrier SLC25A1 are associated with impaired neuromuscular transmission. J Neuromuscul Dis 1:75–90

3. Edvardson S, Porcelli V, Jalas C et al (2013) Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. J Med Genet 50:240–245

4. Gnoni GV, Priore P, Geelen MJ, Siculella L (2009) The mitochondrial citrate carrier: metabolic role and regulation of its activity and expression. IUBMB Life 61:987–994

5. Gutiérrez-Aguilar M, Baines CP (2013) Physiological and pathological roles of mitochondrial SLC25 carriers. Biochem J 454:371–386

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