Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder

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Veröffentlicht in:	Scientific Reports Jg. 13
Hauptverfasser:	Chupong Ittiwut, Rungnapa Ittiwut, Chulaluck Kuptanon, Tomohiro Matsuhashi, Masaru Shimura, Yohei Sugiyama, Takanori Onuki, Akira Ohtake, Kei Murayama, Nithiwat Vatanavicharn, Waralee Dejputtawat, Nitchanund Tantisirivit, Phawin Kor‐anantakul, Wuttichart Kamolvisit, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Format:	Journal Article
Sprache:	Englisch Japanisch
Veröffentlicht:	Springer Science and Business Media LLC 12.12.2023
Schlagworte:	Acidosis, Lactic ATP Synthase Function and Regulation Biochemistry, Genetics and Molecular Biology Biology DNA sequencing Endocrinology Exome sequencing FOS: Biological sciences Gene Genetic disorder Genetics Humans Lactic acidosis Leigh disease Life Sciences Male Medicine Metabolic disorder Mitochondria Mitochondrial disease Mitochondrial Diseases Mitochondrial DNA Mitochondrial Dynamics and Reactive Oxygen Species Regulation Mitochondrial Dysfunction Mitochondrial Encephalomyopathies Mitochondrial myopathy Mitochondrial Proteins Mitochondrial respiratory chain Mitochondrion Molecular biology Mutation Proband Q R Ribosomal Proteins RNA Methylation and Modification in Gene Expression Sanger sequencing Science
ISSN:	2045-2322
Online-Zugang:	Volltext
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ISSN:	2045-2322
DOI:	10.1038/s41598-023-49161-7