Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G
Author:
Affiliation:
1. Neurological Department, Klinik Landstrasse, Messerli Institute, Vienna, Austria
2. Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria
Publisher
International Scientific Information, Inc.
Subject
General Medicine
Cited by 7 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. Late-onset mitochondrial encephalopathy with lactic acidosis and stroke-like episodes and the role of serial imaging;BMJ Case Reports;2024-02
2. The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity;Journal of Neuromuscular Diseases;2024-01-02
3. Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era;Genes;2023-07-27
4. Multimodal single-cell analysis of nonrandom heteroplasmy distribution in human retinal mitochondrial disease;JCI Insight;2023-07-24
5. Bilateral deafness, diabetes, and different types of cardiomyopathy in family members with m.3243A > g mutation: a case report;European Heart Journal - Case Reports;2023-02-01
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