Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients-Reference-Cited by-同舟云学术

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Published:2017-04-20 Issue:5 Volume:40 Page:685-693
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Ogawa Erika,Shimura Masaru,Fushimi Takuya,Tajika Makiko,Ichimoto Keiko,Matsunaga Ayako,Tsuruoka Tomoko,Ishige Mika,Fuchigami Tatsuo,Yamazaki Taro,Mori Masato,Kohda Masakazu,Kishita Yoshihito,Okazaki Yasushi,Takahashi Shori,Ohtake Akira,Murayama Kei

Funder

Japan Agency for Medical Research and Development

Ministry of Education, Culture, Sports, Science, and Technology (JP)

Ministry of Health, Labor and Welfare (JP)

Takeda Science Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-017-0042-6/fulltext.html

Reference34 articles.

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3. Bruno C, Sacco O, Santorelli FM et al (2003) Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene. J Child Neurol 18(4):300–303

4. Budde SM, van den Heuvel LP, Janssen AJ et al (2000) Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem Biophys Res Commun 275(1):63–68

5. Cameron JM, Janer A, Levandovskiy V et al (2011) Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am J Hum Genet 89(4):486–495

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