Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference23 articles.
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2. Clinical and molecular findings in children with complex I deficiency;Bugiani;Biochim. Biophys. Acta,2004
3. Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations;Da Pozzo;Biochem. Biophys. Res. Commun.,2004
4. PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations;Niroula;Nucleic Acids Res.,2016
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Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Insights Into the Role of Mitochondria in Vascular Calcification;Frontiers in Cardiovascular Medicine;2022-04-29
2. Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW;Frontiers in Neurology;2021-07-01
3. The role of mitochondria in vascular calcification;Journal of Translational Internal Medicine;2020-06-01
4. Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation;Neurological Sciences;2019-04-01
5. Valproate;Reactions Weekly;2018-06
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