Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic-Reference-Cited by-同舟云学术

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

Published:2018-09-27 Issue:12 Volume:63 Page:1223-1229
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Hamanaka Kohei,Miyatake Satoko,Zerem Ayelet,Lev Dorit,Blumkin Luba,Yokochi Kenji,Fujita Atsushi,Imagawa Eri,Iwama Kazuhiro^ORCID,Nakashima Mitsuko,Mitsuhashi Satomi,Mizuguchi Takeshi,Takata Atsushi,Miyake Noriko,Saitsu Hirotomo^ORCID,van der Knaap Marjo S.,Lerman-Sagie Tally,Matsumoto Naomichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-018-0516-x.pdf

Reference27 articles.

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2. Tort F, Ferrer-Cortes X, Ribes A. Differential diagnosis of lipoic acid synthesis defects. J Inherit Metab Dis. 2016;39:781–93.

3. Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, et al. ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. J Med Genet. 2015;52:186–94.

4. Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, et al. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. Hum Mol Genet. 2013;22:2590–602.

5. Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, et al. A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet. 2011;89:656–67.

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4. Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural history;2024-02-21

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