A Novel m.1636A > G Variant in Mitochondrial TV Gene Might Cause New Phenotype of Mitochondrial Disease in a 2-Year Old Chinese Boy-Reference-Cited by-同舟云学术

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A Novel m.1636A > G Variant in Mitochondrial TV Gene Might Cause New Phenotype of Mitochondrial Disease in a 2-Year Old Chinese Boy

Published:2024-09-07 Issue: Volume: Page:
ISSN:0893-7648
Container-title:Molecular Neurobiology
language:en
Short-container-title:Mol Neurobiol

Author:

Yang Haiyan,Zhang Victor Wei,Ai Liang,Wu Liwen

Funder

Natural Science Foundation of Hunan Province

National Natural Science Foundation of China

Huxiang Youth Talent Support Program

Key projects supported by Hunan Provincial Health Commission

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s12035-024-04472-2.pdf

Reference17 articles.

1. Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M et al (2020) Interpretation of mitochondrial tRNA variants. Genet Med 22(5):917–926

2. Kundu S, Pakrashi A, Kamalakannan M, Singha D, Tyagi K, Banerjee D et al (2022) Complete mitogenome of the endangered and endemic Nicobar treeshrew (Tupaia nicobarica) and comparison with other Scandentians. Sci Rep 12(1):877

3. Helm M, Brule H, Degoul F, Cepanec C, Leroux JP, Giege R et al (1998) The presence of modified nucleotides is required for cloverleaf folding of a human mitochondrial tRNA. Nucleic Acids Res 26(7):1636–1643

4. Tiranti V, D’Agruma L, Pareyson D, Mora M, Carrara F, Zelante L et al (1998) A novel mutation in the mitochondrial tRNA (Val) gene associated with a complex neurological presentation. Ann Neurol 43(1):98–101

5. Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H et al (2013) Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat 34(6):882–893

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