Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1-Reference-Cited by-同舟云学术

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

Published:2013-08-05 Issue:9 Volume:161 Page:2204-2215
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Sarig Ofer¹,Goldsher Dorit²³,Nousbeck Janna¹,Fuchs-Telem Dana¹⁴,Cohen-Katsenelson Ksenya³,Iancu Theodore C.⁵,Manov Irena⁶,Saada Ann⁷⁸,Sprecher Eli¹⁴,Mandel Hanna³⁹

Affiliation:

1. Department of Dermatology; Tel Aviv Sourasky Medical Center; Tel Aviv Israel

2. MRI Unit; Rambam Medical Center; Haifa Israel

3. Rappaport Faculty of Medicine; Technion-Israel Institute of Technology; Haifa Israel

4. Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine; Tel Aviv University; Ramat Aviv Israel

5. Milman Fund for Pediatric Research; Haifa Israel

6. The Institute of Evolution; Haifa University; Haifa Israel

7. Monique and Jacques Roboh Department of Genetic Research; Hadassah-Hebrew University Medical Center; Jerusalem Israel

8. Department of Genetic and Metabolic Diseases; Hadassah-Hebrew University Medical Center; Jerusalem Israel

9. Metabolic Unit, Meyer Children's Hospital; Rambam Medical Center; Haifa Israel

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36059/fullpdf

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3. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy;Cizkova;Nat Genet,2008

4. Disorders of bile acid synthesis;Clayton;J Inherit Metab Dis,2011

5. Defects in mitochondrial DNA replication and human disease;Copeland;Crit Rev Biochem Mol Biol,2012

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