Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome
Author:
Funder
national natural science foundation of china
shanghai municipal commission of health and family planning
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry
Link
https://link.springer.com/content/pdf/10.1007/s11011-021-00856-8.pdf
Reference35 articles.
1. Ajit Bolar N, Vanlander A, Wilbrecht C, Van der Aa N, Smet J, De Paepe B et al (2013) Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. Hum Mol Genet 22:2590–2602
2. Alfadhel M (2019) Multiple mitochondrial dysfunctions syndrome 4 due to ISCA2 gene defects: a review. Child Neurol Open 6:2329048X19847377
3. Alfadhel M, Nashabat M, Abu Ali Q, Hundallah K (2017) Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease. Neurosciences (Riyadh) 22:4–13
4. Al-Hassnan Z, Al-Dosary M, Alfadhel M, Faqeih E, Alsagob M, Kenana R et al (2015) ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. J Med Genet 52:186–194
5. Ashrafi M, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M et al (2020) An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. Expert Rev Neurother 20:65–84
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1. Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history;Journal of Human Genetics;2024-09-03
2. Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3;Molecular Genetics & Genomic Medicine;2024-06
3. 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
4. Vanishing white matter in multiple mitochondrial dysfunction syndrome-2 due to compound heterozygosity for novel BOLA3 variants;Revue Neurologique;2023-10
5. Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review;Genes;2022-11-06
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