Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
Journal of the American Society of Nephrology : JASN（2022）
摘要
Pathogenic mtDNA variants in and can cause a Gitelman-like syndrome. Genetic investigation of mtDNA should be considered in patients with unexplained Gitelman syndrome-like tubulopathies.
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关键词
Gitelman-s syndrome,Na transport,blood pressure,chronic kidney disease,chronic kidney failure,epithelial sodium transport,genetic renal disease,human genetics,ion transport,mitochondria
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