Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder
About this item
Full title
Author / Creator
Ittiwut, Chupong , Ittiwut, Rungnapa , Kuptanon, Chulaluck , Matsuhashi, Tetsuro , Shimura, Masaru , Sugiyama, Yohei , Onuki, Takanori , Ohtake, Akira , Murayama, Kei , Vatanavicharn, Nithiwat , Dejputtawat, Waralee , Tantisirivit, Nitchanund , Kor-anantakul, Phawin , Kamolvisit, Wuttichart , Suphapeetiporn, Kanya and Shotelersuk, Vorasuk
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
MRPS23
is a nuclear gene encoding a mitochondrial ribosomal protein. A patient with a mitochondrial disorder was found to carry a variant in
MRPS23
. More cases are necessary to establish
MRPS23
as a mitochondrial disease gene. Of 5134 exomes performed in our center, we identified five independent patients who had similar clinical ma...
Alternative Titles
Full title
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder
Authors, Artists and Contributors
Author / Creator
Ittiwut, Rungnapa
Kuptanon, Chulaluck
Matsuhashi, Tetsuro
Shimura, Masaru
Sugiyama, Yohei
Onuki, Takanori
Ohtake, Akira
Murayama, Kei
Vatanavicharn, Nithiwat
Dejputtawat, Waralee
Tantisirivit, Nitchanund
Kor-anantakul, Phawin
Kamolvisit, Wuttichart
Suphapeetiporn, Kanya
Shotelersuk, Vorasuk
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_3ffc143198a147598f15385625c81b7d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3ffc143198a147598f15385625c81b7d
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-023-49161-7
