ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome-Reference-Cited by-同舟云学术

ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome

Published:2015-02 Issue:2 Volume:36 Page:232-239
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sakai Chika¹,Yamaguchi Seiji²,Sasaki Masayuki³,Miyamoto Yusaku⁴,Matsushima Yuichi¹⁵,Goto Yu-ichi¹

Affiliation:

1. Department of Mental Retardation and Birth Defect Research; National Institute of Neuroscience; National Center of Neurology and Psychiatry; Kodaira Tokyo Japan

2. Department of Pediatrics; Shimane University; Izumo Shimane Japan

3. Department of Child Neurology; National Center Hospital; National Center of Neurology and Psychiatry; Kodaira Tokyo Japan

4. Department of Pediatrics; St. Marianna University School of Medicine; Kawasaki Kanagawa Japan

5. Department of Clinical Chemistry and Laboratory Medicine; Graduate School of Medical Sciences; Kyushu University; Fukuoka Japan

Funder

Japan Society for the Promotion of Science

National Center of Neurology and Psychiatry

Ministry of Health, Labor and Welfare of Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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3. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency;Chol;J Med Genet,2003

4. Computational method to predict mitochondrially imported proteins and their targeting sequences;Claros;Eur J Biochem,1996

5. Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase;Corydon;Pediatr Res,1996

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