Phenotypic expression of the m.3243A > G variant not only depends on heteroplasmy or haplotype

Author:

Finsterer JosefORCID,Mehri SouniraORCID

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference5 articles.

1. independent origin for M.3243A>G mitochondrial mutation in three venezuelan cases of melas syndrome;Florez;Clin. Biochem.,2022

2. Copy number variants impact phenotype-genotype relationships for adaptation of industrial yeast Saccharomyces cerevisiae;Liu;Appl. Microbiol. Biotechnol.,2022

3. Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease;Alonso;Mitochondrion.,2021

4. Scholle LM, Zierz S, Mawrin C, Wickenhauser C, Urban DL. Heteroplasmy and Copy Number in the Common m.3243A>G Mutation-A Post-Mortem Genotype-Phenotype Analysis. Genes (Basel). 2020 Feb 18;11(2):212. 10.3390/genes11020212.

5. Efficacy and Safety of the Ketogenic Diet for Mitochondrial Disease With Epilepsy: A Prospective, Open-labeled, Controlled Study;Huang;Front. Neurol.,2022

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